04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders

Up a level
Export as [feed] RSS
Group by: Date | Name | Item Type | Refereed | No Grouping
Number of items at this level: 657.

Aeberli, Daniel

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915

Albrecht, Christiane

Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704

Aliu, Nijas

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Altinkiliç, Emre Murat

Altinkilic, Emre Murat; du Toit, Therina; Sakin, Önder; Attar, Rukset; Groessl, Michael; Flück, Christa E. (2023). The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis. The journal of steroid biochemistry and molecular biology, 233, p. 106366. Elsevier 10.1016/j.jsbmb.2023.106366

Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076

Ammann, Roland

Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002

Amstutz, Deborah

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Anderegg, Manuel

Anderegg, Manuel A.; Dhayat, Nasser A.; Sommer, Grit; Semmo, Mariam; Huynh-Do, Uyen; Vogt, Bruno; Fuster, Daniel G. (2020). Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan. Kidney medicine, 2(2), pp. 162-171. Elsevier 10.1016/j.xkme.2019.11.008

Anderle, Pascale

Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704

Augsburger, Philipp Emanuel

Augsburger, Philipp; Liimatta, Jani; Flück, Christa E (2024). Update on Adrenarche - Still a Mystery. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae008

Baj, Francesca

Parween, Shaheena; DiNardo, Giovanna; Baj, Francesca; Zhang, Chao; Gilardi, Gianfranco; Pandey, Amit Vikram (2020). Differential effects of variations in human P450 oxidoreductase on the aromatase activity of CYP19A1 polymorphisms R264C and R264H. The journal of steroid biochemistry and molecular biology, 196, p. 105507. Elsevier 10.1016/j.jsbmb.2019.105507

Bartholdi, Deborah

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Bersinger, Nick A.

von Wolff, Michael; Kollmann, Zahraa; Flück, Christa E.; Stute, Petra; Marti, U.; Weiss, B.; Bersinger, Nick A. (2014). Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF. Human reproduction, 29(5), pp. 1049-1057. Oxford University Press 10.1093/humrep/deu044

Bieri, Andreas

Bieri, Andreas; Oser-Meier, Monika; Janner, Marco; Cripe-Mamie, Chantal; Pipczynski-Suter, Kathrin; Mullis, Primus-Eugen; Flück, Christa E. (2013). Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study. International journal of pediatric endocrinology, 2013(1), p. 21. BioMed Central 10.1186/1687-9856-2013-21

Bolognini, Ramona

Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374

Bouchoucha, Nadia

Bouchoucha, Nadia; Samara-Boustani, Dinane; Pandey, Amit Vikram; Bony-Trifunovic, Helene; Hofer, Gaby; Aigrain, Yves; Polak, Michel; Flück Pandey, Christa Emma (2014). Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. Molecular and cellular endocrinology, 390(1-2), pp. 8-17. Elsevier Ireland 10.1016/j.mce.2014.03.008

Bovet, Cédric

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Bruggmann, Rémy

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Bräutigam, Konstantin

Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076

Brémovà-Ertl, Tatiana

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Bremova-Ertl, Tatiana; Hofmann, Jan; Stucki, Janine; Vossenkaul, Anja; Gautschi, Matthias (2023). Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. Cells, 12(18) MDPI 10.3390/cells12182314

Bullo, Marina

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Böttcher, Claudia

Schlarb, Pauline; Büttner, Janina M.; Tittel, Sascha R.; Mönkemöller, Kirsten; Müller-Godeffroy, Esther; Boettcher, Claudia; Galler, Angela; Berger, Gabriele; Brosig, Burkhard; Holl, Reinhard W. (2024). Family structures and parents’ occupational models: its impact on children’s diabetes. Acta diabetologica, 61(2), pp. 235-244. Springer 10.1007/s00592-023-02187-9

Boettcher, Claudia; Tittel, Sascha R.; Reschke, Felix; Fritsch, Maria; Schreiner, Felix; Achenbach, Maike; Thiele-Schmitz, Susanne; Gillessen, Anton; Galler, Angela; Nellen-Hellmuth, Nicole; Golembowski, Sven; Holl, Reinhard W. (2024). Diabetes and gender incongruence: frequent mental health issues but comparable metabolic control – a DPV registry study (In Press). Frontiers in endocrinology, 14 Frontiers Research Foundation 10.3389/fendo.2023.1240104

Gohlke, Bettina; Reschke, Felix; Lanzinger, Stefanie; Boettcher, Claudia; Gemulla, Gitta; Thiele-Schmitz, Susanne; Dunstheimer, Désirée; van den Boom, Louise; Woelfle, Joachim; Holl, R W (2024). Time trends towards earlier puberty in boys and girls with type 1 diabetes: Insights from the German Diabetes Prospective Follow-up (DPV) registry, 2000 to 2021. Diabetes, obesity & metabolism, 26(1), pp. 293-300. Wiley 10.1111/dom.15315

Biester, Torben; Eckert, Alexander; Becker, Marianne; Boettcher, Claudia; Golembowski, Sven; Heidtmann, Bettina; Klinkert, Christoph; Müther, Silvia; Rami-Merhar, Birgit; Holl, Reinhard W (2023). Expected Basal Insulin Requirement during CSII therapy by Age Group, Sex and BMI, based on 25,718 Young People with Type 1 Diabetes in the DPV Registry. Diabetes technology & therapeutics, 25(11), pp. 774-781. Mary Ann Liebert 10.1089/dia.2023.0283

Pappa, Angeliki; Haeusler, Martin G.; Tittel, Sascha R.; Boettcher, Claudia; Hilgard, Doerte; Knauer-Fischer, Sabine; Pavel, Marianne; Woelfle, Joachim; Holl, Reinhard W. (2023). Neuropathy in paediatric type 1 diabetes mellitus – clinical characterization and analysis of risk factors in the diabetes prospective follow-up registry DPV (Diabetes-Patienten-Verlaufsdokumentation)-registry. Journal of pediatric endocrinology & metabolism, 36(7), pp. 628-635. De Gruyter 10.1515/jpem-2023-0074

Flury, Monika; Eckert, Alexander; Datz, Nicolin; Kapellen, Thomas; Boettcher, Claudia; Raile, Klemens; Wolf, Johannes; Rami-Merhar, Birgit; Karges, Beate; Neu, Andreas; Holl, Reinhard Walter (2023). Entwicklung der Insulintherapie in der pädiatrischen Diabetologie-Auswertung des DPV-Registers von 1995-2021. Diabetologie und Stoffwechsel, 18(03), pp. 219-226. Thieme 10.1055/a-2004-4449

Boettcher, Claudia; Burckardt, Marie-Anne; Heldt, Kathrin; Bachmann, Sara; Lang-Muritano, Mariarosaria; Hauschild, Michael; Klee, Philippe; Dirlewanger, Mirjam; Schwitzgebel, Valérie M. (2022). Aktuelle Herausforderungen in der Therapie des Typ-1-Diabetes beim Kind. Swiss medical forum, 22(47), pp. 767-771. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2022.09285

Dennig, Michelle J; Sommer, Grit; Zingg, Tanja; Flück, Christa E; Böttcher, Claudia (2022). Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study. Journal of diabetes research, 2022(3170558), p. 3170558. Hindawi 10.1155/2022/3170558

Kamrath, Clemens; Tittel, Sascha R; Dunstheimer, Desiree; Fröhlich-Reiterer, Elke; Freff, Markus; Böttcher, Claudia; Scheffler, Nadine; Lenze, Stefanie; Gericke, Elke; Thiele, Susanne; Holl, Reinhard W (2022). Early vs late histological confirmation of coeliac disease in children with new-onset type 1 diabetes. Diabetologia, 65(7), pp. 1108-1118. Springer 10.1007/s00125-022-05701-w

de Laffolie, Jan; Kamrath, Clemens; Burchert, Diana; Böttcher, Claudia; Wudy, Stefan Alexander; Zimmer, Klaus-Peter (2022). Reversible severe glycogenic hepatopathy in type 1 diabetes. Wiener medizinische Wochenschrift, 172(5-6), pp. 144-147. Springer 10.1007/s10354-020-00795-6

Boettcher, Claudia; Flück, Christa E. (2022). Rare forms of genetic steroidogenic defects affecting the gonads and adrenals. Best practice & research. Clinical endocrinology & metabolism, 36(1), p. 101593. Elsevier 10.1016/j.beem.2021.101593

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Boettcher, Claudia; Tittel, Sascha R; Meissner, Thomas; Gohlke, Bettina; Stachow, Rainer; Dost, Axel; Wunderlich, Sybille; Lowak, Iris; Lanzinger, Stefanie (2021). Sex differences over time for glycemic control, pump use and insulin dose in patients aged 10-40 years with type 1 diabetes: a diabetes registry study. BMJ open diabetes research & care, 9(2) BMJ Publishing Group 10.1136/bmjdrc-2021-002494

Boettcher, Claudia; Sommer, Grit; Peitzsch, Mirko; Zimmer, Klaus-Peter; Eisenhofer, Graeme; Wudy, Stefan A (2020). Differential Responses of Urinary Epinephrine and Norepinephrine to 24-h Shift-Work Stressor in Physicians. Frontiers in endocrinology, 11, p. 572461. Frontiers Research Foundation 10.3389/fendo.2020.572461

Boettcher, Claudia; Utsch, Boris; Galler, Angela; Grasemann, Corinna; Borkenstein, Martin; Denzer, Christian; Heidtmann, Bettina; Tittel, Sascha R; Holl, Reinhard W (2020). Estimated Glomerular Filtration Rates Calculated by New and Old Equations in Children and Adolescents With Type 1 Diabetes-What to Do With the Results? Frontiers in endocrinology, 11(52), p. 52. Frontiers Research Foundation 10.3389/fendo.2020.00052

Santi, Maristella; Boettcher, Claudia (2020). Le retard pubertaire chez la fille. Journal für gynäkologische Endokrinologie/Schweiz, 23(1), pp. 18-24. Springer 10.1007/s41975-020-00133-4

Bürgi, Sibylle

Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838

Camats Tarruella, Núria

Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück Pandey, Christa Emma (2018). Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics, 26(9), pp. 1329-1338. Nature Publishing Group 10.1038/s41431-018-0202-7

Fernández-Cancio, Mónica; Camats Tarruella, Núria; Flück Pandey, Christa Emma; Zalewski, Adam; Dick, Bernhard; Frey-von Matt, Brigitte; Monné, Raquel; Torán, Núria; Audí, Laura; Pandey, Amit Vikram (2018). Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency. Pharmaceuticals, 11(2), p. 37. MDPI 10.3390/ph11020037

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Fernández, Juan M.; Ortega, Ana M.; Udhane, Sameer Sopanrao; Andaluz, Pilar; Audí, Laura; Flück Pandey, Christa Emma (2014). STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases. Clinical endocrinology, 80(2), pp. 191-199. Blackwell Scientific Publications 10.1111/cen.12293

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169

Casaulta, Carmen

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Christ, Emanuel

Hornemann, Thorsten; Alecu, Irina; Hagenbuch, Niels; Zhakupova, Assem; Cremonesi, Alessio; Gautschi, Matthias; Jung, Hans H.; Meienberg, Fabian; Bilz, Stefan; Christ, Emanuel; Baumgartner, Matthias R.; Hochuli, Michel (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular genetics and metabolism, 125(1-2), pp. 73-78. Elsevier 10.1016/j.ymgme.2018.07.003

Clemetson, Jeannine

Hooley, Elizabeth; Papagrigoriou, Evangelos; Navdaev, Alexei; Pandey, Amit V; Clemetson, Jeannine M; Clemetson, Kenneth J; Emsley, Jonas (2008). The crystal structure of the platelet activator aggretin reveals a novel (alphabeta)2 dimeric structure. Biochemistry, 47(30), pp. 7831-7837. Washington, D.C.: American Chemical Society 10.1021/bi800528t

Clemetson, Kenneth John

Hooley, Elizabeth; Papagrigoriou, Evangelos; Navdaev, Alexei; Pandey, Amit V; Clemetson, Jeannine M; Clemetson, Kenneth J; Emsley, Jonas (2008). The crystal structure of the platelet activator aggretin reveals a novel (alphabeta)2 dimeric structure. Biochemistry, 47(30), pp. 7831-7837. Washington, D.C.: American Chemical Society 10.1021/bi800528t

Deladoëy, Johnny

Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838

Flück, Christa; Deladoëy, Johnny; Nayak, S.; Zeller, O.; Kopp, P.; Mullis, Primus-Eugen (2001). Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). European journal of endocrinology, 145(4), pp. 439-444. BioScientifica Ltd.

Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica

Deladoëy, Johnny; Flück, Christa; Bex, M.; Yoshimura, N.; Harada, N.; Mullis, Primus-Eugen (1999). Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. The Journal of clinical endocrinology and metabolism, 84(11), pp. 4050-4054. The Endocrine Society 10.1210/jcem.84.11.6135

Deladoëy, Johnny; Flück, Christa; Büyükgebiz, A.; Kuhlmann, B. V.; Eblé, Andrée; Hindmarsh, P. C.; Wu, W.; Mullis, Primus-Eugen (1999). "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism, 84(5), pp. 1645-1650. The Endocrine Society 10.1210/jcem.84.5.5681

Deng, Haibin

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Dennig, Michelle Joanna

Dennig, Michelle J; Sommer, Grit; Zingg, Tanja; Flück, Christa E; Böttcher, Claudia (2022). Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study. Journal of diabetes research, 2022(3170558), p. 3170558. Hindawi 10.1155/2022/3170558

Dhayat, Nasser

Anderegg, Manuel A.; Dhayat, Nasser A.; Sommer, Grit; Semmo, Mariam; Huynh-Do, Uyen; Vogt, Bruno; Fuster, Daniel G. (2020). Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan. Kidney medicine, 2(2), pp. 162-171. Elsevier 10.1016/j.xkme.2019.11.008

Dick, Bernhard

Fernández-Cancio, Mónica; Camats Tarruella, Núria; Flück Pandey, Christa Emma; Zalewski, Adam; Dick, Bernhard; Frey-von Matt, Brigitte; Monné, Raquel; Torán, Núria; Audí, Laura; Pandey, Amit Vikram (2018). Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency. Pharmaceuticals, 11(2), p. 37. MDPI 10.3390/ph11020037

Malikova, Jana; Brixius-Anderko, Simone; Udhane, Sameer Sopanrao; Parween, Shaheena; Dick, Bernhard; Bernhardt, Rita; Pandey, Amit Vikram (2017). CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2. Journal of steroid biochemistry and molecular biology, 174, pp. 192-200. Elsevier 10.1016/j.jsbmb.2017.09.007

Diepold, Miriam

Schneider, Christine; Zingg, Tanja; Slavova, Nedelina; Diepold, Miriam; Xydias, Theodoros; Flück, Christa E.; Rössler, Jochen Karl (2019). Schwere Komplikationen einer beta-Thalassaemia major. Swiss Medical Forum, 19(49-50), pp. 818-821. EMH Swiss Medical Publishers 10.4414/smf.2019.08327

Diserens, Gaëlle

Diez-Fernandez, Carmen; Hertig, Damian; Loup, Marc; Diserens, Gaëlle; Henry, Hugues; Vermathen, Peter; Nuoffer, Jean-Marc; Häberle, Johannes; Braissant, Olivier (2019). Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: an in vitro study in rat 3D organotypic brain cell cultures. Journal of inherited metabolic disease, 42(6), pp. 1077-1087. Wiley 10.1002/jimd.12090

Djonov, Valentin Georgiev

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Dorn, Patrick

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Du Toit, Therina

Sharma, Katyayani; Lanzilotto, Angelo; Yakubu, Jibira; Therkelsen, Søren; Vöegel, Clarissa Daniela; Du Toit, Therina; Jørgensen, Flemming Steen; Pandey, Amit V. (2024). Effect of Essential Oil Components on the Activity of Steroidogenic Cytochrome P450. Biomolecules, 14(2), p. 203. MDPI 10.3390/biom14020203

Pignatti, Emanuele; Du Toit, Therina; Flück, Christa E (2023). Development and function of the fetal adrenal. Reviews in endocrine and metabolic disorders, 24(1), pp. 5-21. Springer 10.1007/s11154-022-09756-3

Na'Amneh Elzenaty, Rawda; Du Toit, Therina; Flück, Christa (2022). Basics of androgen synthesis and action. Best practice & research. Clinical endocrinology & metabolism, 36(4), p. 101665. Elsevier 10.1016/j.beem.2022.101665

Dyntar, Daniela

Roser, Katharina; Baenziger, Julia; Ilic, Anica; Mitter, Vera R; Mader, Luzius; Dyntar, Daniela; Michel, Gisela; Sommer, Grit (2023). Health-related quality of life before and during the COVID-19 pandemic in Switzerland: a cross-sectional study. Quality of life research, 32(9), pp. 2695-2706. Springer 10.1007/s11136-023-03414-0

Eblé, Andrée

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265

Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Iliev, Daniel I.; Binder, Gerhard; Flück, Christa; Mullis, Primus-Eugen (2013). Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology, 154(11), pp. 4215-4225. Endocrine Society 10.1210/en.2013-1089

Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847

Petkovic, Vibor; Godi, Michela; Pandey, Amit V; Lochmatter, Didier; Buchanan, Charles R; Dattani, Mehul T; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2010). Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. Journal of clinical endocrinology and metabolism, 95(2), pp. 731-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-1247

Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838

Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica

Deladoëy, Johnny; Flück, Christa; Büyükgebiz, A.; Kuhlmann, B. V.; Eblé, Andrée; Hindmarsh, P. C.; Wu, W.; Mullis, Primus-Eugen (1999). "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism, 84(5), pp. 1645-1650. The Endocrine Society 10.1210/jcem.84.5.5681

Felder, Christine

Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153

Felser, Andrea Debora

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Hertig, Damian; Maddah, Sally; Memedovski, Roman; Kurth, Sandra; Moreno, Aitor; Pennestri, Matteo; Felser, Andrea; Nuoffer, Jean-Marc; Vermathen, Peter (2021). Live monitoring of cellular metabolism and mitochondrial respiration in 3D cell culture system using NMR spectroscopy. Analyst, 146(13), pp. 4326-4339. Royal Society of Chemistry 10.1039/d1an00041a

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Fiedler, Georg Martin

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Fingerhut, Ralph

Malikova, Jana; Zingg, Tanja; Fingerhut, Ralph; Sluka, Susanna; Grössl, Michael; Brixius-Anderko, Simone; Bernhardt, Rita; McDougall, Jane; Pandey, Amit Vikram; Flück, Christa Emma (2019). HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone research in paediatrics, 91(4), pp. 262-270. Karger 10.1159/000500522

Flück Pandey, Christa Emma

Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251

Augsburger, Philipp; Liimatta, Jani; Flück, Christa E (2024). Update on Adrenarche - Still a Mystery. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae008

Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941

Liimatta, Jani; Flück, Christa E; Mäntyselkä, Aino; Häkkinen, Merja R; Auriola, Seppo; Voutilainen, Raimo; Jääskeläinen, Jarmo; Lakka, Timo A (2023). Effects of 2-year physical activity and dietary intervention on adrenarchal and pubertal development: the PANIC study. The journal of clinical endocrinology and metabolism, 108(12), e1603-e1613. Oxford University Press 10.1210/clinem/dgad367

Altinkilic, Emre Murat; du Toit, Therina; Sakin, Önder; Attar, Rukset; Groessl, Michael; Flück, Christa E. (2023). The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis. The journal of steroid biochemistry and molecular biology, 233, p. 106366. Elsevier 10.1016/j.jsbmb.2023.106366

Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915

Pignatti, Emanuele; Du Toit, Therina; Flück, Christa E (2023). Development and function of the fetal adrenal. Reviews in endocrine and metabolic disorders, 24(1), pp. 5-21. Springer 10.1007/s11154-022-09756-3

Raftopoulou, Christina; Abawi, Ozair; Sommer, Grit; Binou, Maria; Paltoglou, George; Flück, Christa E; van den Akker, Erica L T; Charmandari, E (2023). Leukocyte Telomere Length in Children with Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 108(2), pp. 443-452. Oxford University Press 10.1210/clinem/dgac560

Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E. (2023). Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity. Hormone research in paediatrics, 96(2), pp. 169-179. Karger 10.1159/000519691

Guran, Tulay; Flück Pandey, Christa Emma (2023). Introduction. Hormone research in paediatrics, 96(2), p. 115. Karger 10.1159/000519896

Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515

Mazzi, Sara; Nussbaum, Marie-Lou; Flück, Christa E. (2023). Pediatric Transgender Care: Experience of a Swiss Tertiary Center Over the Past Decade. Archives of Pediatrics, 8(2) Gavin Publishers 10.29011/2575-825X.100281

Flück, Christa E; Kuiri-Hänninen, Tanja; Silvennoinen, Sanna; Sankilampi, Ulla; Groessl, Michael (2022). The androgen metabolome of preterm infants reflects fetal adrenal gland involution. The journal of clinical endocrinology and metabolism, 107(11), pp. 3111-3119. Oxford University Press 10.1210/clinem/dgac482

Dennig, Michelle J; Sommer, Grit; Zingg, Tanja; Flück, Christa E; Böttcher, Claudia (2022). Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study. Journal of diabetes research, 2022(3170558), p. 3170558. Hindawi 10.1155/2022/3170558

Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076

Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075

Na'Amneh Elzenaty, Rawda; Du Toit, Therina; Flück, Christa (2022). Basics of androgen synthesis and action. Best practice & research. Clinical endocrinology & metabolism, 36(4), p. 101665. Elsevier 10.1016/j.beem.2022.101665

Wabitsch, Martin; Farooqi, Sadaf; Flück, Christa E; Bratina, Natasa; Mallya, Usha G; Stewart, Murray; Garrison, Jill; van den Akker, Erica; Kühnen, Peter (2022). Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide. Journal of the Endocrine Society, 6(6), bvac057. Oxford University Press 10.1210/jendso/bvac057

Troger, Tobias; Sommer, Grit; Lang-Muritano, Mariarosaria; Konrad, Daniel; Kuhlmann, Beatrice; Zumsteg, Urs; Flück, Christa E. (2022). Characteristics of growth in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond. The journal of clinical endocrinology and metabolism, 107(2), e487-e499. Oxford University Press 10.1210/clinem/dgab701

Claahsen-van der Grinten, Hedi L; Speiser, Phyllis W; Ahmed, S Faisal; Arlt, Wiebke; Auchus, Richard J; Falhammar, Henrik; Flück, Christa E; Guasti, Leonardo; Huebner, Angela; Kortmann, Barbara B M; Krone, Nils; Merke, Deborah P; Miller, Walter L; Nordenström, Anna; Reisch, Nicole; Sandberg, David E; Stikkelbroeck, Nike M M L; Touraine, Philippe; Utari, Agustini; Wudy, Stefan A; ... (2022). Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management. Endocrine reviews, 43(1), pp. 91-159. Oxford University Press 10.1210/endrev/bnab016

Boettcher, Claudia; Flück, Christa E. (2022). Rare forms of genetic steroidogenic defects affecting the gonads and adrenals. Best practice & research. Clinical endocrinology & metabolism, 36(1), p. 101593. Elsevier 10.1016/j.beem.2021.101593

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Saner, Christoph; Flück, Christa E (2022). Normale und gestörte Pubertät: Diagnostik und Therapie. In: Costa, Serban-Dan; Scharl, Anton; Stute, Petra; Janni, Wolfgang (eds.) Die Gynäkologie. Springer Reference Medizin (pp. 1-13). Berlin, Heidelberg: Springer 10.1007/978-3-662-47329-0_13-1

Madhavarapu, Abhinav; Zacharin, Margaret; Flück, Christa E; Saner, Christoph (2022). Adherence to Growth Hormone-Determined by a Consensual, Center-Based Supply-Associates with Height Outcomes in Youth. Archives of Pediatrics, 7(2) Gavin Publishers 10.29011/2575-825X.100218

Martinez de LaPiscina, Idoia; Flück, Christa E. (2021). Genetics of human sexual development and related disorders. Current opinion in pediatrics, 33(6), pp. 556-563. Wolters Kluwer Health 10.1097/MOP.0000000000001066

Puder, Lia; Roth, Sophie; Krabusch, Philipp; Wiegand, Susanna; Opitz, Robert; Bald, Martin; Flück, Christa; Schulz, Esther; Voss, Egbert; Markó, Lajos; Linz, Peter; Berger, Felix; Müller, Dominik N; Kuehne, Titus; Litt, Michael J; Cone, Roger D; Kühnen, Peter; Kelm, Marcus (2021). Cardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System. The journal of clinical endocrinology and metabolism, 106(9), pp. 2606-2616. Oxford University Press 10.1210/clinem/dgab368

Santi, Maristella; Flück Pandey, Christa E.; Hauschild, Michael; Kuhlmann, Beatrice; Kuehni, Claudia E.; Sommer, Grit (2021). Health behavior of women with Turner Syndrome. Acta paediatrica, 110(8), pp. 2424-2429. Wiley 10.1111/apa.15814

Poitou, Christine; Puder, Lia; Dubern, Beatrice; Krabusch, Philipp; Genser, Laurent; Wiegand, Susanna; Verkindt, Hélène; Köhn, Arvid; von Schwartzenberg, Reiner Jumpertz; Flück, Christa; Pattou, François; Laville, Martine; Kühnen, Peter; Clément, Karine (2021). Long-term outcomes of bariatric surgery in patients with bi-allelic mutations in the POMC, LEPR, and MC4R genes. Surgery for obesity and related diseases, 17(8), pp. 1449-1456. Elsevier 10.1016/j.soard.2021.04.020

Pignatti, Emanuele; Flück, Christa E. (2021). Adrenal cortex development and related disorders leading to adrenal insufficiency. Molecular and cellular endocrinology, 527, p. 111206. Elsevier Ireland 10.1016/j.mce.2021.111206

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704

Ali, Salma R; Bryce, Jillian; Haghpanahan, Houra; Lewsey, James D; Tan, Li En; Atapattu, Navoda; Birkebaek, Niels H; Blankenstein, Oliver; Neumann, Uta; Balsamo, Antonio; Ortolano, Rita; Bonfig, Walter; Claahsen-van der Grinten, Hedi L; Cools, Martine; Costa, Eduardo Correa; Darendeliler, Feyza; Poyrazoglu, Sukran; Elsedfy, Heba; Finken, Martijn J J; Fluck, Christa E; ... (2021). Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 106(1), e192-e203. Oxford University Press 10.1210/clinem/dgaa694

Hebenstreit, Doris; Ahmed, S Faisal; Krone, Nils; Krall, Christoph; Bryce, Jillian; Alvi, Sabah; Ortolano, Rita; Lima, Mario; Birkebaek, Niels; Bonfig, Walter; Claahsen van der Grinten, Hedi; Costa, Eduardo Correa; Poyrazoglu, Sukran; de Vries, Liat; Flück, Christa E.; Guran, Tulay; Bugrul, Fuat; Güven, Ayla; Iotova, Violeta; Koehler, Birgit; ... (2021). Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study. Sexual development, 15(4), pp. 229-235. Karger 10.1159/000517055

Janner, Marco; Sommer, Grit; Groessl, Michael; Flück, Christa E. (2020). Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities. Journal of clinical endocrinology and metabolism, 105(12), e4439-e4451. Endocrine Society 10.1210/clinem/dgaa598

Audí, Laura; Bertelloni, Silvano; Flück, Christa E. (2020). Molecular Aspects of Sex Development in Mammals: New Insight for Practice. International journal of molecular sciences, 21(23) MDPI 10.3390/ijms21239146

Martínez de LaPiscina, Idoia; Mahmoud, Rana Aa; Sauter, Kay-Sara; Esteva, Isabel; Alonso, Milagros; Costa, Ines; Rial-Rodriguez, Jose Manuel; Rodríguez-Estévez, Amaia; Vela, Amaia; Castano, Luis; Flück, Christa E. (2020). Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1. International journal of molecular sciences, 21(22) MDPI 10.3390/ijms21228554

Kariyawasam, Dulanjalee; Peries, Marianne; Foissac, Frantz; Eymard-Duvernay, Sabrina; Tylleskär, Thorkild; Singata-Madliki, Mandisa; Kankasa, Chipepo; Meda, Nicolas; Tumwine, James; Mwiya, Mwiya; Engebretsen, Ingunn; Flück, Christa E.; Hartmann, Michaela F; Wudy, Stefan A; Hirt, Deborah; Treluyer, Jean Marc; Molès, Jean-Pierre; Blanche, Stéphane; Van De Perre, Philippe; Polak, Michel; ... (2020). Lopinavir-Ritonavir Impairs Adrenal Function in Infants. Clinical infectious diseases, 71(4), pp. 1030-1039. Oxford University Press 10.1093/cid/ciz888

Cohen, Michal; Pignatti, Emanuele; Dines, Monica; Mory, Adi; Ekhilevitch, Nina; Kolodny, Rachel; Flück, Christa E.; Tiosano, Dov (2020). In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. International journal of molecular sciences, 21(16) MDPI 10.3390/ijms21165857

Flück, Christa E.; Parween, Shaheena; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram (2020). Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 117(26), pp. 14632-14633. National Academy of Sciences NAS 10.1073/pnas.2003154117

Parween, Shaheena; Rihs, Silvia; Flück, Christa E. (2020). Metformin inhibits the activation of melanocortin receptors 2 and 3 in vitro: A possible mechanism for its anti-androgenic and weight balancing effects in vivo? The journal of steroid biochemistry and molecular biology, 200, p. 105684. Elsevier 10.1016/j.jsbmb.2020.105684

Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück Pandey, Christa Emma; Audí, Laura; Pandey, Amit Vikram (2020). Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. The journal of clinical endocrinology and metabolism, 105(4), e1272-e1290. Oxford University Press 10.1210/clinem/dgaa076

Camats, Núria; Flück, Christa E; Audí, Laura (2020). Oligogenic Origin of Differences of Sex Development in Humans. International journal of molecular sciences, 21(5) MDPI 10.3390/ijms21051809

van der Straaten, Saskia; Springer, Alexander; Zecic, Aleksandra; Hebenstreit, Doris; Tonnhofer, Ursula; Gawlik, Aneta; Baumert, Malgorzata; Szeliga, Kamila; Debulpaep, Sara; Desloovere, An; Tack, Lloyd; Smets, Koen; Wasniewska, Malgorzata; Corica, Domenico; Calafiore, Mariarosa; Ljubicic, Marie Lindhardt; Busch, Alexander Siegfried; Juul, Anders; Nordenström, Anna; Sigurdsson, Jon; ... (2020). The External Genitalia Score (EGS): A European multicenter validation study. The journal of clinical endocrinology and metabolism, 105(3) Oxford University Press 10.1210/clinem/dgz142

Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185

Ljubicic, Marie Lindhardt; Jørgensen, Anne; Ribeiro de Andrade, Juliana Gabriel; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Cuccaro, Rieko Tadokoro; Darendeliler, Feyza; Flück, Christa E; Grinspon, Romina P; Maciel-Guerra, Andrea; Guran, Tulay; Hannema, Sabine E; Lucas-Herald, Angela K; Hiort, Olaf; Holterhus, Paul Martin; Lichiardopol, Corina; Looijenga, Leendert H J; Ortolano, Rita; Riedl, Stefan; ... (2019). Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis". The journal of clinical endocrinology and metabolism, 104(12), pp. 5812-5813. Oxford University Press 10.1210/jc.2019-01413

Schneider, Christine; Zingg, Tanja; Slavova, Nedelina; Diepold, Miriam; Xydias, Theodoros; Flück, Christa E.; Rössler, Jochen Karl (2019). Schwere Komplikationen einer beta-Thalassaemia major. Swiss Medical Forum, 19(49-50), pp. 818-821. EMH Swiss Medical Publishers 10.4414/smf.2019.08327

Flück, Christa; Nordenström, Anna; Ahmed, S Faisal; Ali, Salma R; Berra, Marta; Hall, Joanne; Köhler, Birgit; Pasterski, Vickie; Robeva, Ralitsa; Schweizer, Katinka; Springer, Alexander; Westerveld, Puck; Hiort, Olaf; Cools, Martine (2019). Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. European journal of endocrinology, 181(5), pp. 545-564. European Society of Endocrinology 10.1530/EJE-19-0363

Ljubicic, Marie Lindhardt; Jørgensen, Anne; Acerini, Carlo; Andrade, Juliana; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Cuccaro, Rieko Tadokoro; Darendeliler, Feyza; Flück, Christa E; Grinspon, Romina P; Maciel-Guerra, Andrea; Guran, Tulay; Hannema, Sabine E; Lucas-Herald, Angela K; Hiort, Olaf; Holterhus, Paul Martin; Lichiardopol, Corina; Looijenga, Leendert H J; Ortolano, Rita; ... (2019). Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis. The journal of clinical endocrinology and metabolism, 104(10), pp. 4366-4381. Oxford University Press 10.1210/jc.2018-02752

Katharopoulos, Efstathios; Sauter, Kay; Pandey, Amit Vikram; Flück Pandey, Christa Emma (2019). In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity. The journal of steroid biochemistry and molecular biology, 190, pp. 263-272. Elsevier 10.1016/j.jsbmb.2019.01.017

Flück, Christa E.; Pandey, Amit V. (2019). Human P450 Oxidoreductase Deficiency. In: Encyclopedia of Endocrine Diseases (Second Edition) 5 (pp. 431-443). Elsevier 10.1016/b978-0-12-801238-3.64966-8

Flück, Christa E.; Audí, Laura; Fernández-Cancio, Mónica; Sauter, Kay-Sara; Martinez de LaPiscina, Idoia; Castaño, Luis; Esteva, Isabel; Camats, Núria (2019). Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. Frontiers in genetics, 10(746), p. 746. Frontiers Media SA 10.3389/fgene.2019.00746

Malikova, Jana; Zingg, Tanja; Fingerhut, Ralph; Sluka, Susanna; Grössl, Michael; Brixius-Anderko, Simone; Bernhardt, Rita; McDougall, Jane; Pandey, Amit Vikram; Flück, Christa Emma (2019). HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone research in paediatrics, 91(4), pp. 262-270. Karger 10.1159/000500522

Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück Pandey, Christa Emma (2018). Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics, 26(9), pp. 1329-1338. Nature Publishing Group 10.1038/s41431-018-0202-7

Fernández-Cancio, Mónica; Camats Tarruella, Núria; Flück Pandey, Christa Emma; Zalewski, Adam; Dick, Bernhard; Frey-von Matt, Brigitte; Monné, Raquel; Torán, Núria; Audí, Laura; Pandey, Amit Vikram (2018). Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency. Pharmaceuticals, 11(2), p. 37. MDPI 10.3390/ph11020037

Martinez de LaPiscina, Idoia; de Mingo, Carmen; Riedl, Stefan; Rodriguez, Amaia; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Camats, Nuria; Sinclair, Andrew; Castaño, Luis; Audi, Laura; Flück Pandey, Christa Emma (2018). GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes. Frontiers in endocrinology, 9, p. 142. Frontiers Research Foundation 10.3389/fendo.2018.00142

Flück, Christa E. (2017). Mechanisms in endocrinology: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. European journal of endocrinology, 177(3), R99-R111. BioScientifica Ltd. 10.1530/EJE-17-0128

Haamberg, Tanja; Troendle, Amineh; Phan-Hug, Franziska; Wyniger, Brigitte; Flück Pandey, Christa Emma (2017). Adrenogenitales Syndrom bei 21-Hydroxylase-Mangel. Swiss medical forum, 17(12), pp. 284-290. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2017.02912

Marti, Nesa Magdalena; Galván, José A.; Pandey, Amit Vikram; Trippel, Mafalda; Tapia, Coya; Müller, Michel; Perren, Aurel; Flück Pandey, Christa Emma (2017). Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome. Molecular and cellular endocrinology, 441, pp. 116-123. Elsevier Ireland 10.1016/j.mce.2016.07.029

Burkhard, Fabian Z; Parween, Shaheena; Udhane, Sameer Sopanrao; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 38-50. Elsevier 10.1016/j.jsbmb.2016.04.003

Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 64-70. Elsevier 10.1016/j.jsbmb.2016.03.031

Parween, Shaheena; Boulez, Florence Roucher; Flück Pandey, Christa Emma; Lienhardt-Roussie, Anne; Mallet, Delphine; Morel, Yves; Pandey, Amit Vikram (2016). P450 Oxidoreductase Deficiency: loss of activity caused by protein instability from a novel L374H mutation. The Journal of clinical endocrinology and metabolism, 101(12), jc.2016-1928. The Endocrine Society 10.1210/jc.2016-1928

Zalewski, Adam; Ma, Nina S; Legeza, Balazs; Renthal, Nora; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2016). Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. The Journal of clinical endocrinology and metabolism, 101(9), pp. 3409-3418. Endocrine Society 10.1210/jc.2016-2124

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265

Udhane, Sameer Sopanrao; Pandey, Amit Vikram; Hofer, Gaby; Mullis, Primus-Eugen; Flück Pandey, Christa Emma (2015). Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis. Scientific Reports, 5, p. 10132. Nature Publishing Group 10.1038/srep10132

Pandey, Amit Vikram; Flück Pandey, Christa Emma (1 April 2015). Altered Drug and Steroid Metabolism by Mutations in Human NADPH Cytochrome P450 Reductase. FASEB journal, 29(Suppl 1), p. 522. Federation of American Societies for Experimental Biology

Flück Pandey, Christa Emma; Pandey, Amit Vikram (2014). Steroidogenesis of the testis - new genes and pathways. Annales d'endocrinologie, 75(2), pp. 40-47. Elsevier 10.1016/j.ando.2014.03.002

Bouchoucha, Nadia; Samara-Boustani, Dinane; Pandey, Amit Vikram; Bony-Trifunovic, Helene; Hofer, Gaby; Aigrain, Yves; Polak, Michel; Flück Pandey, Christa Emma (2014). Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. Molecular and cellular endocrinology, 390(1-2), pp. 8-17. Elsevier Ireland 10.1016/j.mce.2014.03.008

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Fernández, Juan M.; Ortega, Ana M.; Udhane, Sameer Sopanrao; Andaluz, Pilar; Audí, Laura; Flück Pandey, Christa Emma (2014). STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases. Clinical endocrinology, 80(2), pp. 191-199. Blackwell Scientific Publications 10.1111/cen.12293

von Wolff, Michael; Kollmann, Zahraa; Flück, Christa E.; Stute, Petra; Marti, U.; Weiss, B.; Bersinger, Nick A. (2014). Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF. Human reproduction, 29(5), pp. 1049-1057. Oxford University Press 10.1093/humrep/deu044

Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Iliev, Daniel I.; Binder, Gerhard; Flück, Christa; Mullis, Primus-Eugen (2013). Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology, 154(11), pp. 4215-4225. Endocrine Society 10.1210/en.2013-1089

Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847

Pandey, Amit Vikram; Flück, Christa E (2013). NADPH P450 oxidoreductase: structure, function, and pathology of diseases. Pharmacology & therapeutics, 138(2), pp. 229-54. Amsterdam: Elsevier 10.1016/j.pharmthera.2013.01.010

Riddick, David S; Ding, Xinxin; Wolf, C Roland; Porter, Todd D; Pandey, Amit V; Zhang, Qing-Yu; Gu, Jun; Finn, Robert D; Ronseaux, Sebastien; McLaughlin, Lesley A; Henderson, Colin J; Zou, Ling; Flück, Christa E (2013). NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology. Drug metabolism and disposition, 41(1), pp. 12-23. Bethesda, Md.: American Society for Pharmacology and Experimental Therapeutics 10.1124/dmd.112.048991

Udhane, Sameer Sopanrao; Kempna, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa (2013). Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. PLoS ONE, 8(7), e68691. Public Library of Science 10.1371/journal.pone.0068691

Bieri, Andreas; Oser-Meier, Monika; Janner, Marco; Cripe-Mamie, Chantal; Pipczynski-Suter, Kathrin; Mullis, Primus-Eugen; Flück, Christa E. (2013). Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study. International journal of pediatric endocrinology, 2013(1), p. 21. BioMed Central 10.1186/1687-9856-2013-21

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169

Flück, Christa E; Pandey, Amit V (2011). Clinical and biochemical consequences of p450 oxidoreductase deficiency. Endocrine development, 20, pp. 63-79. Basel: Karger

Hirsch, Andrea; Meimaridou, Eirini; Fernandez-Cancio, Monica; Pandey, Amit V; Clemente, María; Audi, Laura; Clark, Adrian J L; Flück, Christa E (2011). Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. Journal of clinical endocrinology and metabolism, 96(1), E65-72. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2010-1056

Flück Pandey, Christa Emma; Mallet, Delphine; Hofer, Gaby; Samara-Boustani, Dinane; Leger, Juliane; Polak, Michel; Morel, Yves; Pandey, Amit Vikram (2011). Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency. Biochemical and biophysical research communications, 412(4), pp. 572-577. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2011.08.001

Petkovic, Vibor; Eblé, Andrée; Pandey, Amit V; Betta, Marta; Mella, Patrizia; Flück, Christa E; Buzi, Fabio; Mullis, Primus-Eugen (2011). A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. Growth hormone & IGF research, 21(3), pp. 160-6. Oxford: Elsevier 10.1016/j.ghir.2011.04.002

Nicolo, Catherine; Flück, Christa E.; Mullis, Primus E.; Pandey, Amit V. (2010). Restoration of mutant cytochrome P450 reductase activity by external flavin. Molecular and cellular endocrinology, 321(2), pp. 245-252. Shannon: Elsevier Ireland 10.1016/j.mce.2010.02.024

Petkovic, Vibor; Godi, Michela; Pandey, Amit V; Lochmatter, Didier; Buchanan, Charles R; Dattani, Mehul T; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2010). Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. Journal of clinical endocrinology and metabolism, 95(2), pp. 731-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-1247

Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2010). Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. Biochemical and biophysical research communications, 401(1), pp. 149-53. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.09.035

Pandey, Amit V; Flück, Christa E; Mullis, Primus-Eugen (2010). Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase. Biochemical and biophysical research communications, 400(3), pp. 374-8. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.08.072

Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2009). Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation. Molecular and cellular endocrinology, 313(1-2), pp. 17-22. Shannon: Elsevier Ireland 10.1016/j.mce.2009.09.001

Sim, Sarah C; Miller, Walter L; Zhong, Xiao-Bo; Arlt, Wiebke; Ogata, Tsutomu; Ding, Xinxin; Wolf, C Roland; Flück, Christa E; Pandey, Amit V; Henderson, Colin J; Porter, Todd D; Daly, Ann K; Nebert, Daniel W; Ingelman-Sundberg, Magnus (2009). Nomenclature for alleles of the cytochrome P450 oxidoreductase gene. Pharmacogenetics and genomics, 19(7), pp. 565-6. London: Lippincott Williams & Wilkins 10.1097/FPC.0b013e32832af5b7

Flück, Christa E; Pandey, Amit V; Huang, Ningwu; Agrawal, Vishal; Miller, Walter L (2008). P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. Endocrine development, 13, pp. 67-81. Basel: Karger 10.1159/000134826

Flück, Christa E; Nicolo, Catherine; Pandey, Amit V (2007). Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase. Fundamental & clinical pharmacology, 21(4), pp. 399-410. Oxford: Blackwell Science 10.1111/j.1472-8206.2007.00520.x

Pepe, Carolina M; Saraco, Nora I; Baquedano, Maria Sonia; Guercio, Gabriela; Vaiani, Elisa; Marino, Roxana; Pandey, Amit V; Flück, Christa E; Rivarola, Marco A; Belgorosky, Alicia (2007). The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues. Clinical endocrinology, 67(5), pp. 698-705. Oxford: Blackwell Scientific Publications 10.1111/j.1365-2265.2007.02948.x

Pandey, Amit V.; Kempná, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa E. (2007). Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. Molecular endocrinology, 21(10), pp. 2579-95. Bethesda, Md.: Endocrine Society 10.1210/me.2007-0245

Janner, Marco; Pandey, Amit V.; Mullis, Primus E.; Flück, Christa E. (2006). Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein. European journal of endocrinology, 155(1), pp. 143-151. Bristol: BioScientifica Ltd. 10.1530/eje.1.02172

Flück, Christa E.; Maret, Alexander; Mallet, Delphine; Portrat-Doyen, Stéphanie; Achermann, John C.; Leheup, Bruno; Theintz, Gérald E.; Mullis, Primus-Eugen; Morel, Yves (2005). A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. Journal of clinical endocrinology and metabolism, 90(9), pp. 5304-5308. Endocrine Society 10.1210/jc.2005-0874

Flück, Christa; Mullis, Primus-Eugen (2005). The diabetic child in the emergency room. Therapeutische Umschau, 62(8), pp. 571-576. Huber

Schnyder, Sabine; Mullis, Primus E.; Ellard, Sian; Hattersley, Andrew T.; Flück, Christa E. (2005). Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss medical weekly, 135(23-24), pp. 352-356. EMH Schweizerischer Ärzteverlag

Huang, Ningwu; Pandey, Amit Vikram; Agrawal, Vishal; Reardon, William; Lapunzina, Pablo D.; Mowat, David; Jabs, Ethylin Wang; Van Vliet, Guy; Sack, Joseph; Flück Pandey, Christa Emma; Miller, Walter L. (2005). Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. American journal of human genetics, 76(5), pp. 729-749. Cell Press 10.1086/429417

Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838

Flück, Christa E.; Yaworsky, Dustin C.; Miller, Walter L. (2005). Effects of anticonvulsants on human p450c17 (17alpha-hydroxylase/17,20 lyase) and 3beta-hydroxysteroid dehydrogenase type 2. Epilepsia, 46(3), pp. 444-448. Wiley-Blackwell 10.1111/j.0013-9580.2005.38404.x

Pandey, Amit Vikram; Flück Pandey, Christa Emma; Huang, Ningwu; Tajima, Toshihiro; Fujieda, Kenji; Miller, Walter L. (2004). P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes. Endocrine research, 30(4), pp. 881-888. Informa Healthcare 10.1081/ERC-200044134

Flück, Christa; Yaworski, D.; Miller, W. L. (2004). Effect of anticonvulsants on activities of P450c17 and 3betaHSDII. Endocrine research, 30(4), pp. 955-956. Informa Healthcare

Miller, Walter L.; Huang, Ningwu; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2004). P450 oxidoreductase deficiency. Lancet, 364(9446), p. 1663. Elsevier 10.1016/S0140-6736(04)17344-3

Flück, Christa; Miller, Walter L. (2004). GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1. Molecular endocrinology, 18(5), pp. 1144-1157. Endocrine Society 10.1210/me.2003-0342

Flück Pandey, Christa Emma; Tajima, Toshihro; Pandey, Amit Vikram; Arlt, Wiebke; Okuhara, Kouji; Verge, Charles F.; Jabs, Ethylin Wang; Mendonça, Berenice B.; Fujieda, Kenji; Miller, Walter L. (2004). Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature genetics, 36(3), pp. 228-230. Nature America 10.1038/ng1300

Flück, Christa; Miller, Walter L.; Auchus, Richard J. (2003). The 17, 20-lyase activity of cytochrome p450c17 from human fetal testis favors the delta5 steroidogenic pathway. Journal of clinical endocrinology and metabolism, 88(8), pp. 3762-3766. Endocrine Society 10.1210/jc.2003-030143

Flück, Christa; Martens, John W. M.; Conte, Felix A.; Miller, Walter L. (2002). Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. Journal of clinical endocrinology and metabolism, 87(9), pp. 4318-4323. Endocrine Society 10.1210/jc.2002-020501

Flück, Christa; Deladoëy, Johnny; Nayak, S.; Zeller, O.; Kopp, P.; Mullis, Primus-Eugen (2001). Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). European journal of endocrinology, 145(4), pp. 439-444. BioScientifica Ltd.

Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica

Flück, Christa; Kuhlmann, B. V.; Mullis, Primus-Eugen (1999). Metabolic control in children and adolescents with diabetes mellitus type I in Berne: a cross-sectional study. Schweizerische medizinische Wochenschrift, 129(44), pp. 1650-1655. B. Schwabe & Co.

Deladoëy, Johnny; Flück, Christa; Bex, M.; Yoshimura, N.; Harada, N.; Mullis, Primus-Eugen (1999). Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. The Journal of clinical endocrinology and metabolism, 84(11), pp. 4050-4054. The Endocrine Society 10.1210/jcem.84.11.6135

Flück, Christa; Kuhlmann, B V; Mullis, Primus-Eugen (1999). Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed type I diabetes mellitus with and without ketoacidosis. Diabetologia, 42(9), pp. 1067-1070. Springer 10.1007/s001250051272

Deladoëy, Johnny; Flück, Christa; Büyükgebiz, A.; Kuhlmann, B. V.; Eblé, Andrée; Hindmarsh, P. C.; Wu, W.; Mullis, Primus-Eugen (1999). "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism, 84(5), pp. 1645-1650. The Endocrine Society 10.1210/jcem.84.5.5681

Frangez, Ziva

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Freiburghaus, Katrin

Mathis, Déborah; Prost, Jean-Christophe; Maeder, Gabriela; Arackal, Liya; Zhang, Haoyue; Kurth, Sandra; Freiburghaus, Katrin; Nuoffer, Jean-Marc (2024). Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports, 65(2), pp. 116-123. Wiley 10.1002/jmd2.12412

Frey-von Matt, Brigitte

Fernández-Cancio, Mónica; Camats Tarruella, Núria; Flück Pandey, Christa Emma; Zalewski, Adam; Dick, Bernhard; Frey-von Matt, Brigitte; Monné, Raquel; Torán, Núria; Audí, Laura; Pandey, Amit Vikram (2018). Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency. Pharmaceuticals, 11(2), p. 37. MDPI 10.3390/ph11020037

Fuster, Daniel Guido

Anderegg, Manuel A.; Dhayat, Nasser A.; Sommer, Grit; Semmo, Mariam; Huynh-Do, Uyen; Vogt, Bruno; Fuster, Daniel G. (2020). Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan. Kidney medicine, 2(2), pp. 162-171. Elsevier 10.1016/j.xkme.2019.11.008

Gallati, Sabina

Konrad, Martin; Schaller, André; Seelow, Dominik; Pandey, Amit Vikram; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; ... (2006). Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. American journal of human genetics, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617

Galván Hernández, José Alberto

Marti, Nesa Magdalena; Galván, José A.; Pandey, Amit Vikram; Trippel, Mafalda; Tapia, Coya; Müller, Michel; Perren, Aurel; Flück Pandey, Christa Emma (2017). Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome. Molecular and cellular endocrinology, 441, pp. 116-123. Elsevier Ireland 10.1016/j.mce.2016.07.029

Gao, Yanyun

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Gautschi, Matthias

Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153

Bremova-Ertl, Tatiana; Hofmann, Jan; Stucki, Janine; Vossenkaul, Anja; Gautschi, Matthias (2023). Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. Cells, 12(18) MDPI 10.3390/cells12182314

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Mütze, U; Gleich, F; Barić, I; Baumgartner, M; Burlina, A; Chapman, K A; Chien, Y; Cortès-Saladelafont, E; De Laet, C; Dobbelaere, D; Eysken, F; Gautschi, M; Santer, R; Häberle, J; Joaquín, C; Karall, D; Lindner, M; Lund, A M; Mühlhausen, C; Murphy, E; ... (2023). Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases - data from the E-IMD consortium. Journal of inherited metabolic disease, 46(2), pp. 220-231. Wiley 10.1002/jimd.12572

Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R; Banford, Samantha; Burlina, Alberto B; Cabrera, Analía; Chiesa, Ana; Couce, M Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M; Timson, David J; Berry, Gerard T; Rubio-Gozalbo, M Estela (2022). Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet journal of rare diseases, 17(1), p. 331. BioMed Central 10.1186/s13023-022-02494-4

Bösch, Florin; Landolt, Markus A; Baumgartner, Matthias R; Fernandez, Susana; Forny, Patrick; Gautschi, Matthias; Grünert, Sarah C; Häberle, Johannes; Horvath, Carolina; Karall, Daniela; Lampis, Danila; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Szinnai, Gabor; Huemer, Martina (2022). Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Molecular genetics and metabolism reports, 31, p. 100876. Elsevier 10.1016/j.ymgmr.2022.100876

Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel (2022). Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. Journal of inherited metabolic disease, 45(2), pp. 235-247. Wiley 10.1002/jimd.12451

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Mengel, Eugen; Patterson, Marc C; Da Riol, Rosalia M; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Harmatz, Paul; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Andreasen, Anne Katrine; Geist, Marie Aavang; Havnsøe Torp Petersen, Nikolaj; Ingemann, Linda; Hansen, Thomas; ... (2021). Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. Journal of inherited metabolic disease, 44(6), pp. 1463-1480. Wiley 10.1002/jimd.12428

Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9

Treacy, Eileen P.; Vencken, Sebastian; Bosch, Annet M.; Gautschi, Matthias; Rubio‐Gozalbo, Estela; Dawson, Charlotte; Nerney, Darragh; Colhoun, Hugh Owen; Shakerdi, Loai; Pastores, Gregory M.; O'Flaherty, Roisin; Saldova, Radka (2021). Abnormal N ‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake. JIMD reports, 61(1), pp. 76-88. Wiley 10.1002/jmd2.12237

Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; ... (2021). Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 16(1), p. 246. BioMed Central 10.1186/s13023-021-01855-9

Mengel, Eugen; Bembi, Bruno; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H T; Kirkegaard, Thomas; ... (2020). Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 15(1), p. 328. BioMed Central 10.1186/s13023-020-01616-0

van Rijt, Willemijn J; Jager, Emmalie A; Allersma, Derk P; Aktuğlu Zeybek, A Çiğdem; Bhattacharya, Kaustuv; Debray, François-Guillaume; Ellaway, Carolyn J; Gautschi, Matthias; Geraghty, Michael T; Gil-Ortega, David; Larson, Austin A; Moore, Francesca; Morava, Eva; Morris, Andrew A; Oishi, Kimihiko; Schiff, Manuel; Scholl-Bürgi, Sabine; Tchan, Michel C; Vockley, Jerry; Witters, Peter; ... (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in medicine, 22(5), pp. 908-916. Springer Nature 10.1038/s41436-019-0739-z

Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi-Vici, Carlo; Alcalde Martin, C.; Baethmann, M.; Ballhausen, D.; Blasco-Alonso, J.; Boy, N.; Bueno, M.; Burgos Peláez, R.; ... (2018). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry (In Press). Journal of inherited metabolic disease Springer 10.1007/s10545-018-0238-4

Hornemann, Thorsten; Alecu, Irina; Hagenbuch, Niels; Zhakupova, Assem; Cremonesi, Alessio; Gautschi, Matthias; Jung, Hans H.; Meienberg, Fabian; Bilz, Stefan; Christ, Emanuel; Baumgartner, Matthias R.; Hochuli, Michel (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular genetics and metabolism, 125(1-2), pp. 73-78. Elsevier 10.1016/j.ymgme.2018.07.003

Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7

Ge, Huixiang

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Germic, Nina

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Graber, Franziska

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Grafmüller, Stefanie

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Grössl, Michael

Pignatti, Emanuele; Kollar, Jakub; Hafele, Evelyn; Schuster, Daniela; Steele, Ronald E; Vogt, Bruno; Schumacher, Christoph; Groessl, Michael (2023). Structural and Clinical Characterization of CYP11B2 Inhibition by Dexfadrostat Phosphate. The journal of steroid biochemistry and molecular biology, 235(106409), p. 106409. Elsevier 10.1016/j.jsbmb.2023.106409

Altinkilic, Emre Murat; du Toit, Therina; Sakin, Önder; Attar, Rukset; Groessl, Michael; Flück, Christa E. (2023). The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis. The journal of steroid biochemistry and molecular biology, 233, p. 106366. Elsevier 10.1016/j.jsbmb.2023.106366

Flück, Christa E; Kuiri-Hänninen, Tanja; Silvennoinen, Sanna; Sankilampi, Ulla; Groessl, Michael (2022). The androgen metabolome of preterm infants reflects fetal adrenal gland involution. The journal of clinical endocrinology and metabolism, 107(11), pp. 3111-3119. Oxford University Press 10.1210/clinem/dgac482

Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076

Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075

Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704

Janner, Marco; Sommer, Grit; Groessl, Michael; Flück, Christa E. (2020). Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities. Journal of clinical endocrinology and metabolism, 105(12), e4439-e4451. Endocrine Society 10.1210/clinem/dgaa598

Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185

Malikova, Jana; Zingg, Tanja; Fingerhut, Ralph; Sluka, Susanna; Grössl, Michael; Brixius-Anderko, Simone; Bernhardt, Rita; McDougall, Jane; Pandey, Amit Vikram; Flück, Christa Emma (2019). HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone research in paediatrics, 91(4), pp. 262-270. Karger 10.1159/000500522

Haamberg, Tanja

Haamberg, Tanja; Troendle, Amineh; Phan-Hug, Franziska; Wyniger, Brigitte; Flück Pandey, Christa Emma (2017). Adrenogenitales Syndrom bei 21-Hydroxylase-Mangel. Swiss medical forum, 17(12), pp. 284-290. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2017.02912

He, Zhaoyue

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Hediger, Matthias

Konrad, Martin; Schaller, André; Seelow, Dominik; Pandey, Amit Vikram; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; ... (2006). Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. American journal of human genetics, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617

Hertig, Damian

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Urzì, Christian; Hertig, Damian; Meyer, Christoph; Maddah, Sally; Nuoffer, Jean-Marc; Vermathen, Peter (2022). Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR. International journal of molecular sciences, 23(12), p. 6555. MDPI 10.3390/ijms23126555

Hertig, Damian; Maddah, Sally; Memedovski, Roman; Kurth, Sandra; Moreno, Aitor; Pennestri, Matteo; Felser, Andrea; Nuoffer, Jean-Marc; Vermathen, Peter (2021). Live monitoring of cellular metabolism and mitochondrial respiration in 3D cell culture system using NMR spectroscopy. Analyst, 146(13), pp. 4326-4339. Royal Society of Chemistry 10.1039/d1an00041a

Diez-Fernandez, Carmen; Hertig, Damian; Loup, Marc; Diserens, Gaëlle; Henry, Hugues; Vermathen, Peter; Nuoffer, Jean-Marc; Häberle, Johannes; Braissant, Olivier (2019). Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: an in vitro study in rat 3D organotypic brain cell cultures. Journal of inherited metabolic disease, 42(6), pp. 1077-1087. Wiley 10.1002/jimd.12090

Hewer, Ekkehard Walter

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Hirsch, Andrea

Hirsch, Andrea; Meimaridou, Eirini; Fernandez-Cancio, Monica; Pandey, Amit V; Clemente, María; Audi, Laura; Clark, Adrian J L; Flück, Christa E (2011). Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. Journal of clinical endocrinology and metabolism, 96(1), E65-72. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2010-1056

Hochuli, Michel

Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel (2022). Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. Journal of inherited metabolic disease, 45(2), pp. 235-247. Wiley 10.1002/jimd.12451

Hofer, Gaby

Bouchoucha, Nadia; Samara-Boustani, Dinane; Pandey, Amit Vikram; Bony-Trifunovic, Helene; Hofer, Gaby; Aigrain, Yves; Polak, Michel; Flück Pandey, Christa Emma (2014). Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. Molecular and cellular endocrinology, 390(1-2), pp. 8-17. Elsevier Ireland 10.1016/j.mce.2014.03.008

Udhane, Sameer Sopanrao; Kempna, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa (2013). Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. PLoS ONE, 8(7), e68691. Public Library of Science 10.1371/journal.pone.0068691

Flück Pandey, Christa Emma; Mallet, Delphine; Hofer, Gaby; Samara-Boustani, Dinane; Leger, Juliane; Polak, Michel; Morel, Yves; Pandey, Amit Vikram (2011). Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency. Biochemical and biophysical research communications, 412(4), pp. 572-577. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2011.08.001

Humbert, Magali

Humbert, Magali; Seiler, Kristina; Mosimann, Severin; Rentsch, Vreni; Sharma, Katyayani; Pandey, Amit Vikram; McKenna, Sharon L.; Tschan, Mario P. (2021). Reducing FASN expression sensitizes acute myeloid leukemia cells to differentiation therapy. Cell death and differentiation, 28(8), pp. 2465-2481. Springer Nature 10.1038/s41418-021-00768-1

Huynh-Do, Uyen

Anderegg, Manuel A.; Dhayat, Nasser A.; Sommer, Grit; Semmo, Mariam; Huynh-Do, Uyen; Vogt, Bruno; Fuster, Daniel G. (2020). Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan. Kidney medicine, 2(2), pp. 162-171. Elsevier 10.1016/j.xkme.2019.11.008

Jackson, Christopher

Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374

Jagannathan, Vidya

Vimercati, Sara; Elli, S; Jagannathan, Vidya; Pandey, Amit Vikram; Peduto, Nadja; Leeb, Tosso; Mevissen, Meike (2019). In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes. Toxicology in vitro, 60, pp. 116-124. Elsevier 10.1016/j.tiv.2019.05.011

Janner, Marco

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Saner, Christoph; Senior, Alistair M; Zhang, Hanyue; Eloranta, Aino-Maija; Magnussen, Costan G; Sabin, Matthew A; Juonala, Markus; Janner, Marco; Burgner, David P; Schwab, Ursula; Haapala, Eero A; Heitmann, Berit L; Simpson, Stephen J; Raubenheimer, David; Lakka, Timo A (2023). Evidence for protein leverage in a general population sample of children and adolescents. European journal of clinical nutrition, 77(6), pp. 652-659. Springer Nature 10.1038/s41430-023-01276-w

Steffens, Britta; Koch, Gilbert; Gächter, Pascal; Claude, Fabien; Gotta, Verena; Bachmann, Freya; Schropp, Johannes; Janner, Marco; l'Allemand, Dagmar; Konrad, Daniel; Welzel, Tatjana; Szinnai, Gabor; Pfister, Marc (2023). Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease. Frontiers in medicine, 10, p. 1099470. Frontiers 10.3389/fmed.2023.1099470

Janner, Marco; Saner, Christoph (2022). Impact of Type 1 Diabetes Mellitus on Bone Health in Children. Hormone research in paediatrics, 95(3), pp. 205-214. Karger 10.1159/000521627

Koch, Gilbert; Steffens, Britta; Leroux, Stephanie; Gotta, Verena; Schropp, Johannes; Gächter, Pascal; Bachmann, Freya; Welzel, Tatjana; Janner, Marco; L'Allemand, Dagmar; Konrad, Daniel; Szinnai, Gabor; Pfister, Marc (2021). Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study. Journal of pharmacokinetics and pharmacodynamics, 48(5), pp. 711-723. Springer 10.1007/s10928-021-09765-w

Saner, Christoph; Laitinen, Tomi T.; Nuotio, Joel; Arnup, Sarah J.; Harcourt, Brooke E.; Bekkering, Siroon; McCallum, Zoe; Kao, Kung-Ting; Janner, Marco; Magnussen, Costan G.; Sabin, Matthew A.; Juonala, Markus; Burgner, David P. (2021). Modest decrease in severity of obesity in adolescence associates with low arterial stiffness. Atherosclerosis, 335, pp. 23-30. Elsevier 10.1016/j.atherosclerosis.2021.09.013

Janner, Marco; Sommer, Grit; Groessl, Michael; Flück, Christa E. (2020). Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities. Journal of clinical endocrinology and metabolism, 105(12), e4439-e4451. Endocrine Society 10.1210/clinem/dgaa598

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265

Bieri, Andreas; Oser-Meier, Monika; Janner, Marco; Cripe-Mamie, Chantal; Pipczynski-Suter, Kathrin; Mullis, Primus-Eugen; Flück, Christa E. (2013). Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study. International journal of pediatric endocrinology, 2013(1), p. 21. BioMed Central 10.1186/1687-9856-2013-21

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169

Janner, Marco; Pandey, Amit V.; Mullis, Primus E.; Flück, Christa E. (2006). Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein. European journal of endocrinology, 155(1), pp. 143-151. Bristol: BioScientifica Ltd. 10.1530/eje.1.02172

Jorgens Prado, Mayara

Jorgens Prado, Mayara; Ligabue-Braun, Rodrigo; Zaha, Arnaldo; Rossetti, Maria Lucia Rosa; Pandey, Amit V (2022). Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2. Frontiers in Pharmacology, 13, p. 931089. Frontiers 10.3389/fphar.2022.931089

Jorgens Prado, Mayara; Ligabue-Braun, Rodrigo; Zaha, Arnaldo; Rosa Rossetti, Maria Lucia; Pandey, Amit Vikram (2021). Meta analysis of variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2. [Dataset].

Kallol, Sampada Arvindrao

Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704

Karatkevich, Darya

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Katharopoulos, Efstathios

Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185

Katharopoulos, Efstathios; Sauter, Kay; Pandey, Amit Vikram; Flück Pandey, Christa Emma (2019). In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity. The journal of steroid biochemistry and molecular biology, 190, pp. 263-272. Elsevier 10.1016/j.jsbmb.2019.01.017

Kempna, Petra

Udhane, Sameer Sopanrao; Kempna, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa (2013). Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. PLoS ONE, 8(7), e68691. Public Library of Science 10.1371/journal.pone.0068691

Pandey, Amit V.; Kempná, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa E. (2007). Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. Molecular endocrinology, 21(10), pp. 2579-95. Bethesda, Md.: Endocrine Society 10.1210/me.2007-0245

Kieninger, Elisabeth

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Klein, Andrea Katharina

Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153

Kocher, Gregor

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Kohl Schwartz, Alexandra

Minger, M; Sommer, G; Mitter, V; Purtschert, L; von Wolff, M; Kohl Schwartz, Alexandra (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Zeitschrift für Geburtshilfe und Neonatologie, 225(Suppl 1), e48-e48. Thieme

Minger, M.; Sommer, G.; Mitter, V.; Purtschert, L.; von Wolff, M.; Kohl Schwartz, A. (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Human reproduction, 36(Suppl 1), i487-i487. Oxford University Press 10.1093/humrep/deab130.767

Kollmann, Zahraa

von Wolff, Michael; Kollmann, Zahraa; Flück, Christa E.; Stute, Petra; Marti, U.; Weiss, B.; Bersinger, Nick A. (2014). Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF. Human reproduction, 29(5), pp. 1049-1057. Oxford University Press 10.1093/humrep/deu044

Konrad, Martin

Konrad, Martin; Schaller, André; Seelow, Dominik; Pandey, Amit Vikram; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; ... (2006). Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. American journal of human genetics, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617

Konstantinoudis, Garyfallos

Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002

Korten, Insa Christina Severine

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Kouri, Chrysanthi

Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251

Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941

Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E. (2023). Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity. Hormone research in paediatrics, 96(2), pp. 169-179. Karger 10.1159/000519691

Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515

Krack, Paul

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Krüger, Linn

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Kuonen, Rahel

Strebel, Sven; Baust, Katja; Grabow, Desiree; Byrne, Julianne; Langer, Thorsten; Am Zehnhoff-Dinnesen, Antoinette; Kuonen, Rahel; Weiss, Annette; Kepak, Tomas; Kruseova, Jarmila; Berger, Claire; Calaminus, Gabriele; Sommer, Grit; Kuehni, Claudia E (2023). Auditory complications among childhood cancer survivors and health-related quality of life: a PanCareLIFE study. (In Press). Journal of Cancer Survivorship Springer 10.1007/s11764-023-01456-4

Calaminus, Gabriele; Baust, Katja; Berger, Claire; Byrne, Julianne; Binder, Harald; Casagranda, Leonie; Grabow, Desiree; Grootenhuis, Martha; Kaatsch, Peter; Kaiser, Melanie; Kepak, Tomas; Kepáková, Kateřina; Kremer, Leontien C M; Kruseova, Jarmila; Luks, Ales; Spix, Claudia; van den Berg, Marleen; van den Heuvel-Eibrink, Marry M M; van Dulmen-den Broeder, Eline; Kuonen, Rahel; ... (2021). Health-Related Quality of Life in European Childhood Cancer Survivors: Protocol for a Study Within PanCareLIFE. JMIR research protocols, 10(1), e21851. JMIR Publications 10.2196/21851

Kurth, Sandra

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Mathis, Déborah; Prost, Jean-Christophe; Maeder, Gabriela; Arackal, Liya; Zhang, Haoyue; Kurth, Sandra; Freiburghaus, Katrin; Nuoffer, Jean-Marc (2024). Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports, 65(2), pp. 116-123. Wiley 10.1002/jmd2.12412

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Hertig, Damian; Maddah, Sally; Memedovski, Roman; Kurth, Sandra; Moreno, Aitor; Pennestri, Matteo; Felser, Andrea; Nuoffer, Jean-Marc; Vermathen, Peter (2021). Live monitoring of cellular metabolism and mitochondrial respiration in 3D cell culture system using NMR spectroscopy. Analyst, 146(13), pp. 4326-4339. Royal Society of Chemistry 10.1039/d1an00041a

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Kühni, Claudia

Strebel, Sven; Baust, Katja; Grabow, Desiree; Byrne, Julianne; Langer, Thorsten; Am Zehnhoff-Dinnesen, Antoinette; Kuonen, Rahel; Weiss, Annette; Kepak, Tomas; Kruseova, Jarmila; Berger, Claire; Calaminus, Gabriele; Sommer, Grit; Kuehni, Claudia E (2023). Auditory complications among childhood cancer survivors and health-related quality of life: a PanCareLIFE study. (In Press). Journal of Cancer Survivorship Springer 10.1007/s11764-023-01456-4

Santi, Maristella; Flück Pandey, Christa E.; Hauschild, Michael; Kuhlmann, Beatrice; Kuehni, Claudia E.; Sommer, Grit (2021). Health behavior of women with Turner Syndrome. Acta paediatrica, 110(8), pp. 2424-2429. Wiley 10.1111/apa.15814

Calaminus, Gabriele; Baust, Katja; Berger, Claire; Byrne, Julianne; Binder, Harald; Casagranda, Leonie; Grabow, Desiree; Grootenhuis, Martha; Kaatsch, Peter; Kaiser, Melanie; Kepak, Tomas; Kepáková, Kateřina; Kremer, Leontien C M; Kruseova, Jarmila; Luks, Ales; Spix, Claudia; van den Berg, Marleen; van den Heuvel-Eibrink, Marry M M; van Dulmen-den Broeder, Eline; Kuonen, Rahel; ... (2021). Health-Related Quality of Life in European Childhood Cancer Survivors: Protocol for a Study Within PanCareLIFE. JMIR research protocols, 10(1), e21851. JMIR Publications 10.2196/21851

Sävendahl, Lars; Cooke, Rosie; Tidblad, Anders; Beckers, Dominique; Butler, Gary; Cianfarani, Stefano; Clayton, Peter; Coste, Joël; Hokken-Koelega, Anita C S; Kiess, Wieland; Kuehni, Claudia E; Albertsson-Wikland, Kerstin; Deodati, Annalisa; Ecosse, Emmanuel; Gausche, Ruth; Giacomozzi, Claudio; Konrad, Daniel; Landier, Fabienne; Pfaeffle, Roland; Sommer, Grit; ... (2020). Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study. The lancet. Diabetes & endocrinology, 8(8), pp. 683-692. Elsevier 10.1016/S2213-8587(20)30163-7

Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002

Roser, Katharina; Mader, Luzius; Baenziger, Julia; Sommer, Grit; Kuehni, Claudia E.; Michel, Gisela (2019). Health-related quality of life in Switzerland: normative data for the SF-36v2 questionnaire. Quality of life research, 28(7), pp. 1963-1977. Springer 10.1007/s11136-019-02161-5

Latzin, Philipp

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Leeb, Tosso

Vimercati, Sara; Elli, S; Jagannathan, Vidya; Pandey, Amit Vikram; Peduto, Nadja; Leeb, Tosso; Mevissen, Meike (2019). In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes. Toxicology in vitro, 60, pp. 116-124. Elsevier 10.1016/j.tiv.2019.05.011

Leichtle, Alexander Benedikt

Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075

Liimatta, Jani Petri Tapani

Augsburger, Philipp; Liimatta, Jani; Flück, Christa E (2024). Update on Adrenarche - Still a Mystery. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae008

Liimatta, Jani; Flück, Christa E; Mäntyselkä, Aino; Häkkinen, Merja R; Auriola, Seppo; Voutilainen, Raimo; Jääskeläinen, Jarmo; Lakka, Timo A (2023). Effects of 2-year physical activity and dietary intervention on adrenarchal and pubertal development: the PANIC study. The journal of clinical endocrinology and metabolism, 108(12), e1603-e1613. Oxford University Press 10.1210/clinem/dgad367

Liu, He

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Lochmatter, Didier

Petkovic, Vibor; Godi, Michela; Pandey, Amit V; Lochmatter, Didier; Buchanan, Charles R; Dattani, Mehul T; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2010). Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. Journal of clinical endocrinology and metabolism, 95(2), pp. 731-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-1247

Losmanová, Tereza

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Lämmle, Alexander

Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007

Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3), pp. 646-659. Wiley 10.1002/hep.32247

Laemmle, Alexander; Häberle, Johannes; Willenbring, Holger (2022). Reply to "The Role of Aquaporin 9 in Modeling of Ornithine Transcarbamylase Deficiency". Hepatology, 75(4), pp. 1059-1060. Wiley 10.1002/hep.32290

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Lämmle, Alexander (2021). Editorial. Paediatrica, 32 Schweizerische Gesellschaft für Pädiatrie SGP

Lee-Montiel, Felipe T; Laemmle, Alexander; Charwat, Verena; Dumont, Laure; Lee, Caleb S; Huebsch, Nathaniel; Okochi, Hideaki; Hancock, Matthew J; Siemons, Brian; Boggess, Steven C; Goswami, Ishan; Miller, Evan W; Willenbring, Holger; Healy, Kevin E (2021). Integrated Isogenic Human Induced Pluripotent Stem Cell-Based Liver and Heart Microphysiological Systems Predict Unsafe Drug-Drug Interaction. Frontiers in Pharmacology, 12, p. 667010. Frontiers 10.3389/fphar.2021.667010

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Maamari, Basel

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Mader, Luzius Adrian

Roser, Katharina; Baenziger, Julia; Ilic, Anica; Mitter, Vera R; Mader, Luzius; Dyntar, Daniela; Michel, Gisela; Sommer, Grit (2023). Health-related quality of life before and during the COVID-19 pandemic in Switzerland: a cross-sectional study. Quality of life research, 32(9), pp. 2695-2706. Springer 10.1007/s11136-023-03414-0

Ilic, Anica; Roser, Katharina; Sommer, Grit; Baenziger, Julia; Mitter, Vera Ruth; Mader, Luzius; Dyntar, Daniela; Michel, Gisela (2022). COVID-19 Information-Seeking, Health Literacy, and Worry and Anxiety During the Early Stage of the Pandemic in Switzerland: A Cross-Sectional Study. International journal of public health, 67, p. 1604717. Frontiers 10.3389/ijph.2022.1604717

Madhavarapu, Abhinav

Madhavarapu, Abhinav; Zacharin, Margaret; Flück, Christa E; Saner, Christoph (2022). Adherence to Growth Hormone-Determined by a Consensual, Center-Based Supply-Associates with Height Outcomes in Youth. Archives of Pediatrics, 7(2) Gavin Publishers 10.29011/2575-825X.100218

Malikova, Jana

Malikova, Jana; Zingg, Tanja; Fingerhut, Ralph; Sluka, Susanna; Grössl, Michael; Brixius-Anderko, Simone; Bernhardt, Rita; McDougall, Jane; Pandey, Amit Vikram; Flück, Christa Emma (2019). HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone research in paediatrics, 91(4), pp. 262-270. Karger 10.1159/000500522

Malikova, Jana; Brixius-Anderko, Simone; Udhane, Sameer Sopanrao; Parween, Shaheena; Dick, Bernhard; Bernhardt, Rita; Pandey, Amit Vikram (2017). CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2. Journal of steroid biochemistry and molecular biology, 174, pp. 192-200. Elsevier 10.1016/j.jsbmb.2017.09.007

Marti, Nesa Magdalena

Marti, Nesa Magdalena; Galván, José A.; Pandey, Amit Vikram; Trippel, Mafalda; Tapia, Coya; Müller, Michel; Perren, Aurel; Flück Pandey, Christa Emma (2017). Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome. Molecular and cellular endocrinology, 441, pp. 116-123. Elsevier Ireland 10.1016/j.mce.2016.07.029

Marti, Thomas

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Martinez de LaPiscina, Idoia

Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251

Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941

Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515

Martinez de LaPiscina, Idoia; Flück, Christa E. (2021). Genetics of human sexual development and related disorders. Current opinion in pediatrics, 33(6), pp. 556-563. Wolters Kluwer Health 10.1097/MOP.0000000000001066

Mathis, Déborah

Mathis, Déborah; Prost, Jean-Christophe; Maeder, Gabriela; Arackal, Liya; Zhang, Haoyue; Kurth, Sandra; Freiburghaus, Katrin; Nuoffer, Jean-Marc (2024). Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports, 65(2), pp. 116-123. Wiley 10.1002/jmd2.12412

Matveeva, Anna

Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349

Mazzi, Sara

Mazzi, Sara; Nussbaum, Marie-Lou; Flück, Christa E. (2023). Pediatric Transgender Care: Experience of a Swiss Tertiary Center Over the Past Decade. Archives of Pediatrics, 8(2) Gavin Publishers 10.29011/2575-825X.100281

McDougall Müller, Felicity Jane

Malikova, Jana; Zingg, Tanja; Fingerhut, Ralph; Sluka, Susanna; Grössl, Michael; Brixius-Anderko, Simone; Bernhardt, Rita; McDougall, Jane; Pandey, Amit Vikram; Flück, Christa Emma (2019). HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone research in paediatrics, 91(4), pp. 262-270. Karger 10.1159/000500522

Mevissen, Meike

Vimercati, Sara; Elli, S; Jagannathan, Vidya; Pandey, Amit Vikram; Peduto, Nadja; Leeb, Tosso; Mevissen, Meike (2019). In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes. Toxicology in vitro, 60, pp. 116-124. Elsevier 10.1016/j.tiv.2019.05.011

Meyer, Christoph Manuel

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Urzì, Christian; Meyer, Christoph; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Methods for Oxygen Determination in an NMR Bioreactor as a Surrogate Marker for Metabolomic Studies in Living Cell Cultures. Analytical chemistry, 95(48), pp. 17486-17493. American Chemical Society 10.1021/acs.analchem.3c02314

Urzì, Christian; Hertig, Damian; Meyer, Christoph; Maddah, Sally; Nuoffer, Jean-Marc; Vermathen, Peter (2022). Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR. International journal of molecular sciences, 23(12), p. 6555. MDPI 10.3390/ijms23126555

Miletta, Maria Consolata

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265

Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Iliev, Daniel I.; Binder, Gerhard; Flück, Christa; Mullis, Primus-Eugen (2013). Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology, 154(11), pp. 4215-4225. Endocrine Society 10.1210/en.2013-1089

Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847

Minger, Mirja Amadea

Minger, M; Sommer, G; Mitter, V; Purtschert, L; von Wolff, M; Kohl Schwartz, Alexandra (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Zeitschrift für Geburtshilfe und Neonatologie, 225(Suppl 1), e48-e48. Thieme

Minger, M.; Sommer, G.; Mitter, V.; Purtschert, L.; von Wolff, M.; Kohl Schwartz, A. (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Human reproduction, 36(Suppl 1), i487-i487. Oxford University Press 10.1093/humrep/deab130.767

Mitter, Vera Ruth

Roser, Katharina; Baenziger, Julia; Ilic, Anica; Mitter, Vera R; Mader, Luzius; Dyntar, Daniela; Michel, Gisela; Sommer, Grit (2023). Health-related quality of life before and during the COVID-19 pandemic in Switzerland: a cross-sectional study. Quality of life research, 32(9), pp. 2695-2706. Springer 10.1007/s11136-023-03414-0

Ilic, Anica; Roser, Katharina; Sommer, Grit; Baenziger, Julia; Mitter, Vera Ruth; Mader, Luzius; Dyntar, Daniela; Michel, Gisela (2022). COVID-19 Information-Seeking, Health Literacy, and Worry and Anxiety During the Early Stage of the Pandemic in Switzerland: A Cross-Sectional Study. International journal of public health, 67, p. 1604717. Frontiers 10.3389/ijph.2022.1604717

Minger, M; Sommer, G; Mitter, V; Purtschert, L; von Wolff, M; Kohl Schwartz, Alexandra (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Zeitschrift für Geburtshilfe und Neonatologie, 225(Suppl 1), e48-e48. Thieme

Minger, M.; Sommer, G.; Mitter, V.; Purtschert, L.; von Wolff, M.; Kohl Schwartz, A. (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Human reproduction, 36(Suppl 1), i487-i487. Oxford University Press 10.1093/humrep/deab130.767

Mullis, Primus-Eugen

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265

Udhane, Sameer Sopanrao; Pandey, Amit Vikram; Hofer, Gaby; Mullis, Primus-Eugen; Flück Pandey, Christa Emma (2015). Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis. Scientific Reports, 5, p. 10132. Nature Publishing Group 10.1038/srep10132

Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Iliev, Daniel I.; Binder, Gerhard; Flück, Christa; Mullis, Primus-Eugen (2013). Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology, 154(11), pp. 4215-4225. Endocrine Society 10.1210/en.2013-1089

Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847

Udhane, Sameer Sopanrao; Kempna, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa (2013). Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. PLoS ONE, 8(7), e68691. Public Library of Science 10.1371/journal.pone.0068691

Bieri, Andreas; Oser-Meier, Monika; Janner, Marco; Cripe-Mamie, Chantal; Pipczynski-Suter, Kathrin; Mullis, Primus-Eugen; Flück, Christa E. (2013). Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study. International journal of pediatric endocrinology, 2013(1), p. 21. BioMed Central 10.1186/1687-9856-2013-21

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169

Petkovic, Vibor; Eblé, Andrée; Pandey, Amit V; Betta, Marta; Mella, Patrizia; Flück, Christa E; Buzi, Fabio; Mullis, Primus-Eugen (2011). A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. Growth hormone & IGF research, 21(3), pp. 160-6. Oxford: Elsevier 10.1016/j.ghir.2011.04.002

Nicolo, Catherine; Flück, Christa E.; Mullis, Primus E.; Pandey, Amit V. (2010). Restoration of mutant cytochrome P450 reductase activity by external flavin. Molecular and cellular endocrinology, 321(2), pp. 245-252. Shannon: Elsevier Ireland 10.1016/j.mce.2010.02.024

Petkovic, Vibor; Godi, Michela; Pandey, Amit V; Lochmatter, Didier; Buchanan, Charles R; Dattani, Mehul T; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2010). Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. Journal of clinical endocrinology and metabolism, 95(2), pp. 731-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-1247

Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2010). Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. Biochemical and biophysical research communications, 401(1), pp. 149-53. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.09.035

Pandey, Amit V; Flück, Christa E; Mullis, Primus-Eugen (2010). Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase. Biochemical and biophysical research communications, 400(3), pp. 374-8. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.08.072

Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2009). Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation. Molecular and cellular endocrinology, 313(1-2), pp. 17-22. Shannon: Elsevier Ireland 10.1016/j.mce.2009.09.001

Pandey, Amit V.; Kempná, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa E. (2007). Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. Molecular endocrinology, 21(10), pp. 2579-95. Bethesda, Md.: Endocrine Society 10.1210/me.2007-0245

Janner, Marco; Pandey, Amit V.; Mullis, Primus E.; Flück, Christa E. (2006). Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein. European journal of endocrinology, 155(1), pp. 143-151. Bristol: BioScientifica Ltd. 10.1530/eje.1.02172

Flück, Christa E.; Maret, Alexander; Mallet, Delphine; Portrat-Doyen, Stéphanie; Achermann, John C.; Leheup, Bruno; Theintz, Gérald E.; Mullis, Primus-Eugen; Morel, Yves (2005). A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. Journal of clinical endocrinology and metabolism, 90(9), pp. 5304-5308. Endocrine Society 10.1210/jc.2005-0874

Flück, Christa; Mullis, Primus-Eugen (2005). The diabetic child in the emergency room. Therapeutische Umschau, 62(8), pp. 571-576. Huber

Schnyder, Sabine; Mullis, Primus E.; Ellard, Sian; Hattersley, Andrew T.; Flück, Christa E. (2005). Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss medical weekly, 135(23-24), pp. 352-356. EMH Schweizerischer Ärzteverlag

Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838

Flück, Christa; Deladoëy, Johnny; Nayak, S.; Zeller, O.; Kopp, P.; Mullis, Primus-Eugen (2001). Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). European journal of endocrinology, 145(4), pp. 439-444. BioScientifica Ltd.

Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica

Flück, Christa; Kuhlmann, B. V.; Mullis, Primus-Eugen (1999). Metabolic control in children and adolescents with diabetes mellitus type I in Berne: a cross-sectional study. Schweizerische medizinische Wochenschrift, 129(44), pp. 1650-1655. B. Schwabe & Co.

Deladoëy, Johnny; Flück, Christa; Bex, M.; Yoshimura, N.; Harada, N.; Mullis, Primus-Eugen (1999). Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. The Journal of clinical endocrinology and metabolism, 84(11), pp. 4050-4054. The Endocrine Society 10.1210/jcem.84.11.6135

Flück, Christa; Kuhlmann, B V; Mullis, Primus-Eugen (1999). Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed type I diabetes mellitus with and without ketoacidosis. Diabetologia, 42(9), pp. 1067-1070. Springer 10.1007/s001250051272

Deladoëy, Johnny; Flück, Christa; Büyükgebiz, A.; Kuhlmann, B. V.; Eblé, Andrée; Hindmarsh, P. C.; Wu, W.; Mullis, Primus-Eugen (1999). "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism, 84(5), pp. 1645-1650. The Endocrine Society 10.1210/jcem.84.5.5681

Na'Amneh Elzenaty, Rawda

Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251

Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941

Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515

Na'Amneh Elzenaty, Rawda; Du Toit, Therina; Flück, Christa (2022). Basics of androgen synthesis and action. Best practice & research. Clinical endocrinology & metabolism, 36(4), p. 101665. Elsevier 10.1016/j.beem.2022.101665

Nicolo, Catherine

Nicolo, Catherine; Flück, Christa E.; Mullis, Primus E.; Pandey, Amit V. (2010). Restoration of mutant cytochrome P450 reductase activity by external flavin. Molecular and cellular endocrinology, 321(2), pp. 245-252. Shannon: Elsevier Ireland 10.1016/j.mce.2010.02.024

Nogueira da Silva e Sousa, Mario Jorge

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Nuoffer, Jean-Marc

Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Mathis, Déborah; Prost, Jean-Christophe; Maeder, Gabriela; Arackal, Liya; Zhang, Haoyue; Kurth, Sandra; Freiburghaus, Katrin; Nuoffer, Jean-Marc (2024). Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports, 65(2), pp. 116-123. Wiley 10.1002/jmd2.12412

Urzì, Christian; Meyer, Christoph; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Methods for Oxygen Determination in an NMR Bioreactor as a Surrogate Marker for Metabolomic Studies in Living Cell Cultures. Analytical chemistry, 95(48), pp. 17486-17493. American Chemical Society 10.1021/acs.analchem.3c02314

Vermathen, Martina; Kämpfer, Tobias; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Intracellular Fate of the Photosensitizer Chlorin e4 with Different Carriers and Induced Metabolic Changes Studied by 1H NMR Spectroscopy. Pharmaceutics, 15(9) MDPI 10.3390/pharmaceutics15092324

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3), pp. 646-659. Wiley 10.1002/hep.32247

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075

Urzì, Christian; Hertig, Damian; Meyer, Christoph; Maddah, Sally; Nuoffer, Jean-Marc; Vermathen, Peter (2022). Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR. International journal of molecular sciences, 23(12), p. 6555. MDPI 10.3390/ijms23126555

Nava, Esmeralda; Hartmann, Britta; Boxheimer, Larissa; Capone Mori, Andrea; Nuoffer, Jean-Marc; Sargsyan, Yelena; Thoms, Sven; Rosewich, Hendrik; Boltshauser, Eugen (2022). How to Detect Isolated PEX10-Related Cerebellar Ataxia? Neuropediatrics, 53(3), pp. 159-166. Thieme 10.1055/s-0041-1741383

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Hertig, Damian; Maddah, Sally; Memedovski, Roman; Kurth, Sandra; Moreno, Aitor; Pennestri, Matteo; Felser, Andrea; Nuoffer, Jean-Marc; Vermathen, Peter (2021). Live monitoring of cellular metabolism and mitochondrial respiration in 3D cell culture system using NMR spectroscopy. Analyst, 146(13), pp. 4326-4339. Royal Society of Chemistry 10.1039/d1an00041a

Illsinger, Sabine; Korenke, G Christoph; Boesch, Sylvia; Nocker, Michael; Karall, Daniela; Nuoffer, Jean M.; Laugwitz, Lucia; Mayr, Johannes A; Scholl-Bürgi, Sabine; Freisinger, Peter; Kowald, Tobias; Kölker, Stefan; Prokisch, Holger; Haack, Tobias B (2020). Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. European journal of medical genetics, 63(11), p. 104046. Elsevier 10.1016/j.ejmg.2020.104046

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Diez-Fernandez, Carmen; Hertig, Damian; Loup, Marc; Diserens, Gaëlle; Henry, Hugues; Vermathen, Peter; Nuoffer, Jean-Marc; Häberle, Johannes; Braissant, Olivier (2019). Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: an in vitro study in rat 3D organotypic brain cell cultures. Journal of inherited metabolic disease, 42(6), pp. 1077-1087. Wiley 10.1002/jimd.12090

Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374

Inauen, Corinne; Rüfenacht, Véronique; Pandey, Amit Vikram; Hu, Liyan; Blom, Henk; Nuoffer, Jean-Marc; Häberle, Johannes (2016). Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions. Molecular diagnosis & therapy, 20(2), pp. 125-133. Springer 10.1007/s40291-015-0182-z

Hu, Liyan; Pandey, Amit Vikram; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Journal of inherited metabolic disease, 38(5), pp. 815-827. Springer 10.1007/s10545-014-9807-3

Balmer, Cécile; Pandey, Amit Vikram; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Fang, Ping; Wong, Lee-Jun; Häberle, Johannes (2014). Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human mutation, 35(1), pp. 27-35. Wiley-Blackwell 10.1002/humu.22469

Hu, Liyan; Pandey, Amit Vikram; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of biological chemistry, 288(48), pp. 34599-611. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M113.503128

Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica

Nussbaum, Marie-Lou Elvira

Mazzi, Sara; Nussbaum, Marie-Lou; Flück, Christa E. (2023). Pediatric Transgender Care: Experience of a Swiss Tertiary Center Over the Past Decade. Archives of Pediatrics, 8(2) Gavin Publishers 10.29011/2575-825X.100281

Ochsenbein, Adrian

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Ontsouka, Corneille Edgar

Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704

Oser-Meier, Monika

Bieri, Andreas; Oser-Meier, Monika; Janner, Marco; Cripe-Mamie, Chantal; Pipczynski-Suter, Kathrin; Mullis, Primus-Eugen; Flück, Christa E. (2013). Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study. International journal of pediatric endocrinology, 2013(1), p. 21. BioMed Central 10.1186/1687-9856-2013-21

Pandey, Amit Vikram

Sharma, Katyayani; Lanzilotto, Angelo; Yakubu, Jibira; Therkelsen, Søren; Vöegel, Clarissa Daniela; Du Toit, Therina; Jørgensen, Flemming Steen; Pandey, Amit V. (2024). Effect of Essential Oil Components on the Activity of Steroidogenic Cytochrome P450. Biomolecules, 14(2), p. 203. MDPI 10.3390/biom14020203

Martinez, Stephanie E; Pandey, Amit Vikram; Perez Jimenez, Tania E; Zhu, Zhaohui; Court, Michael H (2024). Pharmacogenomics of poor drug metabolism in greyhounds: Canine P450 oxidoreductase genetic variation, breed heterogeneity, and functional characterization. PLoS ONE, 19(e0297191) Public Library of Science 10.1371/journal.pone.0297191

Rojas Velazquez, Maria Natalia; Therkelsen, Søren; Pandey, Amit V (2023). Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays. Biomolecules, 13(12) MDPI 10.3390/biom13121728

Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Wróbel, Tomasz M; Jørgensen, Flemming Steen; Pandey, Amit V; Grudzińska, Angelika; Sharma, Katyayani; Yakubu, Jibira; Björkling, Fredrik (2023). Non-steroidal CYP17A1 Inhibitors: Discovery and Assessment. Journal of medicinal chemistry, 66(10), pp. 6542-6566. American Chemical Society 10.1021/acs.jmedchem.3c00442

Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915

Jorgens Prado, Mayara; Ligabue-Braun, Rodrigo; Zaha, Arnaldo; Rossetti, Maria Lucia Rosa; Pandey, Amit V (2022). Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2. Frontiers in Pharmacology, 13, p. 931089. Frontiers 10.3389/fphar.2022.931089

Verma, Sonia; Chakraborti, Soumyananda; Singh, Om P.; Pande, Veena; Dixit, Rajnikant; Pandey, Amit V; Pandey, Kailash C. (2022). Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family. Frontiers in endocrinology, 13, p. 981090. Frontiers Research Foundation 10.3389/fendo.2022.981090

Rojas Velazquez, Maria Natalia; Noebauer, Mathias; Pandey, Amit Vikram (2022). Loss of Protein Stability and Function Caused by P228L Variation in NADPH-Cytochrome P450 Reductase Linked to Lower Testosterone Levels. International journal of molecular sciences, 23(17) MDPI 10.3390/ijms231710141

Wróbel, Tomasz M; Rogova, Oksana; Sharma, Katyayani; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram; Jørgensen, Flemming Steen; Arendrup, Frederic S; Andersen, Kasper L; Björkling, Fredrik (2022). Synthesis and Structure-Activity Relationships of Novel Non-Steroidal CYP17A1 Inhibitors as Potential Prostate Cancer Agents. Biomolecules, 12(2) MDPI 10.3390/biom12020165

Prado, Mayara J.; Singh, Shripriya; Ligabue-Braun, Rodrigo; Meneghetti, Bruna V.; Rispoli, Thaiane; Kopacek, Cristiane; Monteiro, Karina; Zaha, Arnaldo; Rossetti, Maria L. R.; Pandey, Amit Vikram (2022). Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations. International journal of molecular sciences, 23(1), p. 296. MDPI 10.3390/ijms23010296

Jorgens Prado, Mayara; Ligabue-Braun, Rodrigo; Zaha, Arnaldo; Rosa Rossetti, Maria Lucia; Pandey, Amit Vikram (2021). Meta analysis of variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2. [Dataset].

Humbert, Magali; Seiler, Kristina; Mosimann, Severin; Rentsch, Vreni; Sharma, Katyayani; Pandey, Amit Vikram; McKenna, Sharon L.; Tschan, Mario P. (2021). Reducing FASN expression sensitizes acute myeloid leukemia cells to differentiation therapy. Cell death and differentiation, 28(8), pp. 2465-2481. Springer Nature 10.1038/s41418-021-00768-1

Jensen, Simon Bo; Thodberg, Sara; Parween, Shaheena; Moses, Matias E.; Hansen, Cecilie C.; Thomsen, Johannes; Sletfjerding, Magnus B.; Knudsen, Camilla; Del Giudice, Rita; Lund, Philip M.; Castaño, Patricia R.; Bustamante, Yanet G.; Rojas Velazquez, Maria Natalia; Jørgensen, Flemming Steen; Pandey, Amit Vikram; Laursen, Tomas; Møller, Birger Lindberg; Hatzakis, Nikos S. (2021). Biased cytochrome P450-mediated metabolism via small-molecule ligands binding P450 oxidoreductase. Nature Communications, 12(1), p. 2260. Springer Nature 10.1038/s41467-021-22562-w

Mayr, Fabian; Möller, Gabriele; Garscha, Ulrike; Fischer, Jana; Rodríguez Castaño, Patricia; Inderbinen, Silvia G.; Temml, Veronika; Waltenberger, Birgit; Schwaiger, Stefan; Hartmann, Rolf W.; Gege, Christian; Martens, Stefan; Odermatt, Alex; Pandey, Amit V.; Werz, Oliver; Adamski, Jerzy; Stuppner, Hermann; Schuster, Daniela (2020). Finding New Molecular Targets of Familiar Natural Products Using In Silico Target Prediction. International journal of molecular sciences, 21(19), p. 7102. MDPI 10.3390/ijms21197102

Stefela, Alzbeta; Kaspar, Miroslav; Drastik, Martin; Holas, Ondrej; Hroch, Milos; Smutny, Tomas; Skoda, Josef; Hutníková, Miriama; Pandey, Amit Vikram; Micuda, Stanislav; Kudova, Eva; Pavek, Petr (2020). 3β-Isoobeticholic acid efficiently activates the farnesoid X receptor (FXR) due to its epimerization to 3α-epimer by hepatic metabolism. Journal of steroid biochemistry and molecular biology, 202, p. 105702. Elsevier 10.1016/j.jsbmb.2020.105702

Flück, Christa E.; Parween, Shaheena; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram (2020). Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 117(26), pp. 14632-14633. National Academy of Sciences NAS 10.1073/pnas.2003154117

Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück Pandey, Christa Emma; Audí, Laura; Pandey, Amit Vikram (2020). Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. The journal of clinical endocrinology and metabolism, 105(4), e1272-e1290. Oxford University Press 10.1210/clinem/dgaa076

Parween, Shaheena; DiNardo, Giovanna; Baj, Francesca; Zhang, Chao; Gilardi, Gianfranco; Pandey, Amit Vikram (2020). Differential effects of variations in human P450 oxidoreductase on the aromatase activity of CYP19A1 polymorphisms R264C and R264H. The journal of steroid biochemistry and molecular biology, 196, p. 105507. Elsevier 10.1016/j.jsbmb.2019.105507

Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185

Rodríguez Castaño, Patricia; Parween, Shaheena; Pandey, Amit Vikram (2019). Bioactivity of Curcumin on the Cytochrome P450 Enzymes of the Steroidogenic Pathway. International journal of molecular sciences, 20(18) Molecular Diversity Preservation International MDPI 10.3390/ijms20184606

Rojas Velazquez, Maria Natalia; Parween, Shaheena; Udhane, Sameer Sopanrao; Pandey, Amit Vikram (2019). Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase. Biochemical and biophysical research communications, 515(1), pp. 133-138. Elsevier 10.1016/j.bbrc.2019.05.127

Katharopoulos, Efstathios; Sauter, Kay; Pandey, Amit Vikram; Flück Pandey, Christa Emma (2019). In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity. The journal of steroid biochemistry and molecular biology, 190, pp. 263-272. Elsevier 10.1016/j.jsbmb.2019.01.017

Vimercati, Sara; Elli, S; Jagannathan, Vidya; Pandey, Amit Vikram; Peduto, Nadja; Leeb, Tosso; Mevissen, Meike (2019). In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes. Toxicology in vitro, 60, pp. 116-124. Elsevier 10.1016/j.tiv.2019.05.011

Flück, Christa E.; Pandey, Amit V. (2019). Human P450 Oxidoreductase Deficiency. In: Encyclopedia of Endocrine Diseases (Second Edition) 5 (pp. 431-443). Elsevier 10.1016/b978-0-12-801238-3.64966-8

Malikova, Jana; Zingg, Tanja; Fingerhut, Ralph; Sluka, Susanna; Grössl, Michael; Brixius-Anderko, Simone; Bernhardt, Rita; McDougall, Jane; Pandey, Amit Vikram; Flück, Christa Emma (2019). HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone research in paediatrics, 91(4), pp. 262-270. Karger 10.1159/000500522

Parween, Shaheena; Rojas Velazquez, Maria Natalia; Udhane, Sameer Sopanrao; Kagawa, Norio; Pandey, Amit Vikram (2019). Variability in Loss of Multiple Enzyme Activities Due to the Human Genetic Variation P284T Located in the Flexible Hinge Region of NADPH Cytochrome P450 Oxidoreductase. Frontiers in Pharmacology, 10, p. 1187. Frontiers 10.3389/fphar.2019.01187

Fernández-Cancio, Mónica; Camats Tarruella, Núria; Flück Pandey, Christa Emma; Zalewski, Adam; Dick, Bernhard; Frey-von Matt, Brigitte; Monné, Raquel; Torán, Núria; Audí, Laura; Pandey, Amit Vikram (2018). Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency. Pharmaceuticals, 11(2), p. 37. MDPI 10.3390/ph11020037

Martinez de LaPiscina, Idoia; de Mingo, Carmen; Riedl, Stefan; Rodriguez, Amaia; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Camats, Nuria; Sinclair, Andrew; Castaño, Luis; Audi, Laura; Flück Pandey, Christa Emma (2018). GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes. Frontiers in endocrinology, 9, p. 142. Frontiers Research Foundation 10.3389/fendo.2018.00142

Pandey, Amit Vikram; Henderson, Colin J; Ishii, Yuji; Kranendonk, Michel; Backes, Wayne L; Zanger, Ulrich M (2017). Editorial: Role of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function. Frontiers in Pharmacology, 8(881), p. 881. Frontiers 10.3389/fphar.2017.00881

Malikova, Jana; Brixius-Anderko, Simone; Udhane, Sameer Sopanrao; Parween, Shaheena; Dick, Bernhard; Bernhardt, Rita; Pandey, Amit Vikram (2017). CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2. Journal of steroid biochemistry and molecular biology, 174, pp. 192-200. Elsevier 10.1016/j.jsbmb.2017.09.007

Udhane, Sameer Sopanrao; Parween, Shaheena; Kagawa, Norio; Pandey, Amit Vikram (2017). Altered CYP19A1 and CYP3A4 Activities Due to Mutations A115V, T142A, Q153R and P284L in the Human P450 Oxidoreductase. Frontiers in Pharmacology, 8(580), p. 580. Frontiers 10.3389/fphar.2017.00580

Marti, Nesa Magdalena; Galván, José A.; Pandey, Amit Vikram; Trippel, Mafalda; Tapia, Coya; Müller, Michel; Perren, Aurel; Flück Pandey, Christa Emma (2017). Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome. Molecular and cellular endocrinology, 441, pp. 116-123. Elsevier Ireland 10.1016/j.mce.2016.07.029

Burkhard, Fabian Z; Parween, Shaheena; Udhane, Sameer Sopanrao; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 38-50. Elsevier 10.1016/j.jsbmb.2016.04.003

Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 64-70. Elsevier 10.1016/j.jsbmb.2016.03.031

Prasad, Manoj; Walker, Anna N; Kaur, Jasmeet; Thomas, James L; Powell, Shirley A; Pandey, Amit Vikram; Whittal, Randy M; Burak, William E; Petruzzelli, Guy; Bose, Himangshu S (2016). Endoplasmic Reticulum Stress Enhances Mitochondrial Metabolic Activity in Mammalian Adrenals and Gonads. Molecular and cellular biology, 36(24), pp. 3058-3074. American Society for Microbiology 10.1128/MCB.00411-16

Parween, Shaheena; Boulez, Florence Roucher; Flück Pandey, Christa Emma; Lienhardt-Roussie, Anne; Mallet, Delphine; Morel, Yves; Pandey, Amit Vikram (2016). P450 Oxidoreductase Deficiency: loss of activity caused by protein instability from a novel L374H mutation. The Journal of clinical endocrinology and metabolism, 101(12), jc.2016-1928. The Endocrine Society 10.1210/jc.2016-1928

Zalewski, Adam; Ma, Nina S; Legeza, Balazs; Renthal, Nora; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2016). Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. The Journal of clinical endocrinology and metabolism, 101(9), pp. 3409-3418. Endocrine Society 10.1210/jc.2016-2124

Udhane, Sameer Sopanrao; Dick, Bernhard; Hu, Qingzhong; Hartmann, Rolf W; Pandey, Amit Vikram (2016). Specificity of anti-prostate cancer CYP17A1 inhibitors on androgen biosynthesis. Biochemical and biophysical research communications, 477(4), pp. 1005-1010. Academic Press 10.1016/j.bbrc.2016.07.019

Inauen, Corinne; Rüfenacht, Véronique; Pandey, Amit Vikram; Hu, Liyan; Blom, Henk; Nuoffer, Jean-Marc; Häberle, Johannes (2016). Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions. Molecular diagnosis & therapy, 20(2), pp. 125-133. Springer 10.1007/s40291-015-0182-z

Udhane, Sameer S; Parween, Shaheena; Pandey, Amit Vikram (2016). Aromatase Activity is Disrupted by Mutations in P450 Oxidoreductase. Hormone research in paediatrics, 86(Suppl. 1), p. 267. Karger 10.1159/000449142

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265

Zhuang, Lei; Pandey, Amit Vikram; Villiger, Peter; Trueb, Beat (2015). Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells. Biochimica et biophysica acta - molecular cell research, 1853(10 Pt A), pp. 2273-2285. Elsevier 10.1016/j.bbamcr.2015.05.027

Udhane, Sameer S; Pandey, Amit Vikram (1 September 2015). Effect of CYP17A1 Inhibitors Orteronel and Galeterone on Adrenal Androgen Biosynthesis (Unpublished). In: Annual Meeting of European Society for Paediatric Endocrinology ESPE.

Udhane, Sameer Sopanrao; Pandey, Amit Vikram; Hofer, Gaby; Mullis, Primus-Eugen; Flück Pandey, Christa Emma (2015). Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis. Scientific Reports, 5, p. 10132. Nature Publishing Group 10.1038/srep10132

Pandey, Amit Vikram; Flück Pandey, Christa Emma (1 April 2015). Altered Drug and Steroid Metabolism by Mutations in Human NADPH Cytochrome P450 Reductase. FASEB journal, 29(Suppl 1), p. 522. Federation of American Societies for Experimental Biology

Hu, Liyan; Pandey, Amit Vikram; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Journal of inherited metabolic disease, 38(5), pp. 815-827. Springer 10.1007/s10545-014-9807-3

Flück Pandey, Christa Emma; Pandey, Amit Vikram (2014). Steroidogenesis of the testis - new genes and pathways. Annales d'endocrinologie, 75(2), pp. 40-47. Elsevier 10.1016/j.ando.2014.03.002

Bouchoucha, Nadia; Samara-Boustani, Dinane; Pandey, Amit Vikram; Bony-Trifunovic, Helene; Hofer, Gaby; Aigrain, Yves; Polak, Michel; Flück Pandey, Christa Emma (2014). Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. Molecular and cellular endocrinology, 390(1-2), pp. 8-17. Elsevier Ireland 10.1016/j.mce.2014.03.008

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Fernández, Juan M.; Ortega, Ana M.; Udhane, Sameer Sopanrao; Andaluz, Pilar; Audí, Laura; Flück Pandey, Christa Emma (2014). STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases. Clinical endocrinology, 80(2), pp. 191-199. Blackwell Scientific Publications 10.1111/cen.12293

Balmer, Cécile; Pandey, Amit Vikram; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Fang, Ping; Wong, Lee-Jun; Häberle, Johannes (2014). Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human mutation, 35(1), pp. 27-35. Wiley-Blackwell 10.1002/humu.22469

Pandey, Amit Vikram; Sproll, Patrick (2014). Pharmacogenomics of human P450 oxidoreductase. Frontiers in Pharmacology, 5, p. 103. Frontiers 10.3389/fphar.2014.00103

Hu, Liyan; Pandey, Amit Vikram; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of biological chemistry, 288(48), pp. 34599-611. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M113.503128

Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847

Pandey, Amit Vikram; Flück, Christa E (2013). NADPH P450 oxidoreductase: structure, function, and pathology of diseases. Pharmacology & therapeutics, 138(2), pp. 229-54. Amsterdam: Elsevier 10.1016/j.pharmthera.2013.01.010

Riddick, David S; Ding, Xinxin; Wolf, C Roland; Porter, Todd D; Pandey, Amit V; Zhang, Qing-Yu; Gu, Jun; Finn, Robert D; Ronseaux, Sebastien; McLaughlin, Lesley A; Henderson, Colin J; Zou, Ling; Flück, Christa E (2013). NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology. Drug metabolism and disposition, 41(1), pp. 12-23. Bethesda, Md.: American Society for Pharmacology and Experimental Therapeutics 10.1124/dmd.112.048991

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169

Pandey, Amit Vikram (2012). Bioinformatics tools and databases for the study of human growth hormone. In: Developmental Biology of GH Secretion, Growth and Treatment. Endocrine Development: Vol. 23 (pp. 71-85). Basel: Karger 10.1159/000341755

Flück, Christa E; Pandey, Amit V (2011). Clinical and biochemical consequences of p450 oxidoreductase deficiency. Endocrine development, 20, pp. 63-79. Basel: Karger

Hirsch, Andrea; Meimaridou, Eirini; Fernandez-Cancio, Monica; Pandey, Amit V; Clemente, María; Audi, Laura; Clark, Adrian J L; Flück, Christa E (2011). Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. Journal of clinical endocrinology and metabolism, 96(1), E65-72. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2010-1056

Flück Pandey, Christa Emma; Mallet, Delphine; Hofer, Gaby; Samara-Boustani, Dinane; Leger, Juliane; Polak, Michel; Morel, Yves; Pandey, Amit Vikram (2011). Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency. Biochemical and biophysical research communications, 412(4), pp. 572-577. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2011.08.001

Petkovic, Vibor; Eblé, Andrée; Pandey, Amit V; Betta, Marta; Mella, Patrizia; Flück, Christa E; Buzi, Fabio; Mullis, Primus-Eugen (2011). A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. Growth hormone & IGF research, 21(3), pp. 160-6. Oxford: Elsevier 10.1016/j.ghir.2011.04.002

Nicolo, Catherine; Flück, Christa E.; Mullis, Primus E.; Pandey, Amit V. (2010). Restoration of mutant cytochrome P450 reductase activity by external flavin. Molecular and cellular endocrinology, 321(2), pp. 245-252. Shannon: Elsevier Ireland 10.1016/j.mce.2010.02.024

Petkovic, Vibor; Godi, Michela; Pandey, Amit V; Lochmatter, Didier; Buchanan, Charles R; Dattani, Mehul T; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2010). Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. Journal of clinical endocrinology and metabolism, 95(2), pp. 731-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-1247

Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2010). Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. Biochemical and biophysical research communications, 401(1), pp. 149-53. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.09.035

Pandey, Amit V; Flück, Christa E; Mullis, Primus-Eugen (2010). Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase. Biochemical and biophysical research communications, 400(3), pp. 374-8. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2010.08.072

Flück, Christa E; Mullis, Primus E; Pandey, Amit V (2009). Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation. Molecular and cellular endocrinology, 313(1-2), pp. 17-22. Shannon: Elsevier Ireland 10.1016/j.mce.2009.09.001

Sim, Sarah C; Miller, Walter L; Zhong, Xiao-Bo; Arlt, Wiebke; Ogata, Tsutomu; Ding, Xinxin; Wolf, C Roland; Flück, Christa E; Pandey, Amit V; Henderson, Colin J; Porter, Todd D; Daly, Ann K; Nebert, Daniel W; Ingelman-Sundberg, Magnus (2009). Nomenclature for alleles of the cytochrome P450 oxidoreductase gene. Pharmacogenetics and genomics, 19(7), pp. 565-6. London: Lippincott Williams & Wilkins 10.1097/FPC.0b013e32832af5b7

Flück, Christa E; Pandey, Amit V; Huang, Ningwu; Agrawal, Vishal; Miller, Walter L (2008). P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. Endocrine development, 13, pp. 67-81. Basel: Karger 10.1159/000134826

Hooley, Elizabeth; Papagrigoriou, Evangelos; Navdaev, Alexei; Pandey, Amit V; Clemetson, Jeannine M; Clemetson, Kenneth J; Emsley, Jonas (2008). The crystal structure of the platelet activator aggretin reveals a novel (alphabeta)2 dimeric structure. Biochemistry, 47(30), pp. 7831-7837. Washington, D.C.: American Chemical Society 10.1021/bi800528t

Flück, Christa E; Nicolo, Catherine; Pandey, Amit V (2007). Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase. Fundamental & clinical pharmacology, 21(4), pp. 399-410. Oxford: Blackwell Science 10.1111/j.1472-8206.2007.00520.x

Pepe, Carolina M; Saraco, Nora I; Baquedano, Maria Sonia; Guercio, Gabriela; Vaiani, Elisa; Marino, Roxana; Pandey, Amit V; Flück, Christa E; Rivarola, Marco A; Belgorosky, Alicia (2007). The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues. Clinical endocrinology, 67(5), pp. 698-705. Oxford: Blackwell Scientific Publications 10.1111/j.1365-2265.2007.02948.x

Pandey, Amit V.; Kempná, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa E. (2007). Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. Molecular endocrinology, 21(10), pp. 2579-95. Bethesda, Md.: Endocrine Society 10.1210/me.2007-0245

Janner, Marco; Pandey, Amit V.; Mullis, Primus E.; Flück, Christa E. (2006). Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein. European journal of endocrinology, 155(1), pp. 143-151. Bristol: BioScientifica Ltd. 10.1530/eje.1.02172

Pandey, Amit Vikram; Miller, Walter L (2006). Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17. Journal of biological chemistry, 280(14), pp. 13265-13271. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M414673200

Pandey, A V (2006). Biochemical analysis of mutations in P450 oxidoreductase. Biochemical Society transactions, 34(Pt 6), pp. 1186-1191. London: Portland Press 10.1042/BST0341186

Konrad, Martin; Schaller, André; Seelow, Dominik; Pandey, Amit Vikram; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; ... (2006). Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. American journal of human genetics, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617

Huang, Ningwu; Pandey, Amit Vikram; Agrawal, Vishal; Reardon, William; Lapunzina, Pablo D.; Mowat, David; Jabs, Ethylin Wang; Van Vliet, Guy; Sack, Joseph; Flück Pandey, Christa Emma; Miller, Walter L. (2005). Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. American journal of human genetics, 76(5), pp. 729-749. Cell Press 10.1086/429417

Pandey, Amit Vikram; Flück Pandey, Christa Emma; Huang, Ningwu; Tajima, Toshihiro; Fujieda, Kenji; Miller, Walter L. (2004). P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes. Endocrine research, 30(4), pp. 881-888. Informa Healthcare 10.1081/ERC-200044134

Miller, Walter L.; Huang, Ningwu; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2004). P450 oxidoreductase deficiency. Lancet, 364(9446), p. 1663. Elsevier 10.1016/S0140-6736(04)17344-3

Flück Pandey, Christa Emma; Tajima, Toshihro; Pandey, Amit Vikram; Arlt, Wiebke; Okuhara, Kouji; Verge, Charles F.; Jabs, Ethylin Wang; Mendonça, Berenice B.; Fujieda, Kenji; Miller, Walter L. (2004). Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature genetics, 36(3), pp. 228-230. Nature America 10.1038/ng1300

Pandey, Amit Vikram; Babbarwal, Vinod K.; Okoyeh, Jude N.; Joshi, Ratan M.; Puri, Sunil K.; Singh, Ram L.; Chauhan, Virander S. (2003). Hemozoin formation in malaria: a two-step process involving histidine-rich proteins and lipids. Biochemical and biophysical research communications, 308(4), pp. 736-743. Academic Press 10.1016/S0006-291X(03)01465-7

Pandey, Amit Vikram; Mellon, Synthia H.; Miller, Walter L. (2003). Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17. Journal of biological chemistry, 278(5), pp. 2837-2344. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M209527200

Pandey, Amit Vikram; Bisht, Himani; Babbarwal, Vinod K.; Srivastava, Jaya; Pandey, Kailash C.; Chauhan, Virander S. (2001). Mechanism of malarial haem detoxification inhibition by chloroquine. Biochemical journal, 355(Pt 2), pp. 333-338. Portland Press 10.1042/bj3550333

Pandey, Amit Vikram; Tekwani, Babu L.; Singh, Ram L.; Chauhan, Virander S. (1999). Artemisinin, an endoperoxide antimalarial, disrupts the hemoglobin catabolism and heme detoxification systems in malarial parasite. Journal of biological chemistry, 274(27), pp. 19383-19388. American Society for Biochemistry and Molecular Biology 10.1074/jbc.274.27.19383

Pandey, Amit Vikram; Singh, N.; Tekwani, B. L.; Puri, S. K.; Chauhan, V. S. (1999). Assay of β-hematin formation by malaria parasite. Journal of pharmaceutical and biomedical analysis, 20(1-2), pp. 203-207. Pergamon Press 10.1016/S0731-7085(99)00021-7

Pandey, Amit Vikram; Joshi, S. K.; Tekwani, B. L.; Chauhan, V. S. (1999). A colorimetric assay for heme in biological samples using 96-well plates. Analytical biochemistry, 268(1), pp. 159-161. Elsevier 10.1006/abio.1998.2997

Pandey, Amit Vikram; Joshi, Ratanmani; Tekwani, Babu L.; Singh, Ram L.; Chauhan, Virender S. (1997). Synthetic peptides corresponding to a repetitive sequence of malarial histidine rich protein bind haem and inhibit haemozoin formation in vitro. Molecular and biochemical parasitology, 90(1), pp. 281-287. Elsevier 10.1016/S0166-6851(97)00161-8

Pandey, Amit Vikram; Tekwani, Babu L. (1997). Depolymerization of malarial hemozoin: a novel reaction initiated by blood schizontocidal antimalarials. FEBS letters, 402(2-3), pp. 236-240. Elsevier 10.1016/S0014-5793(96)01536-0

Pandey, Amit Vikram; Tekwani, Babu L. (1996). Formation of haemozoin/β-haematin under physiological conditions is not spontaneous. FEBS letters, 393(2-3), pp. 189-192. Elsevier 10.1016/0014-5793(96)00881-2

Pandey, Amit Vikram; Tekwani, Babu L. (1996). Identification and quantification of haemozoin: Some additional facts. Parasitology today, 12(9), p. 370. Elsevier 10.1016/0169-4758(96)80825-8

Parween, Shaheena

Jensen, Simon Bo; Thodberg, Sara; Parween, Shaheena; Moses, Matias E.; Hansen, Cecilie C.; Thomsen, Johannes; Sletfjerding, Magnus B.; Knudsen, Camilla; Del Giudice, Rita; Lund, Philip M.; Castaño, Patricia R.; Bustamante, Yanet G.; Rojas Velazquez, Maria Natalia; Jørgensen, Flemming Steen; Pandey, Amit Vikram; Laursen, Tomas; Møller, Birger Lindberg; Hatzakis, Nikos S. (2021). Biased cytochrome P450-mediated metabolism via small-molecule ligands binding P450 oxidoreductase. Nature Communications, 12(1), p. 2260. Springer Nature 10.1038/s41467-021-22562-w

Flück, Christa E.; Parween, Shaheena; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram (2020). Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 117(26), pp. 14632-14633. National Academy of Sciences NAS 10.1073/pnas.2003154117

Parween, Shaheena; Rihs, Silvia; Flück, Christa E. (2020). Metformin inhibits the activation of melanocortin receptors 2 and 3 in vitro: A possible mechanism for its anti-androgenic and weight balancing effects in vivo? The journal of steroid biochemistry and molecular biology, 200, p. 105684. Elsevier 10.1016/j.jsbmb.2020.105684

Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück Pandey, Christa Emma; Audí, Laura; Pandey, Amit Vikram (2020). Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. The journal of clinical endocrinology and metabolism, 105(4), e1272-e1290. Oxford University Press 10.1210/clinem/dgaa076

Parween, Shaheena; DiNardo, Giovanna; Baj, Francesca; Zhang, Chao; Gilardi, Gianfranco; Pandey, Amit Vikram (2020). Differential effects of variations in human P450 oxidoreductase on the aromatase activity of CYP19A1 polymorphisms R264C and R264H. The journal of steroid biochemistry and molecular biology, 196, p. 105507. Elsevier 10.1016/j.jsbmb.2019.105507

Rodríguez Castaño, Patricia; Parween, Shaheena; Pandey, Amit Vikram (2019). Bioactivity of Curcumin on the Cytochrome P450 Enzymes of the Steroidogenic Pathway. International journal of molecular sciences, 20(18) Molecular Diversity Preservation International MDPI 10.3390/ijms20184606

Rojas Velazquez, Maria Natalia; Parween, Shaheena; Udhane, Sameer Sopanrao; Pandey, Amit Vikram (2019). Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase. Biochemical and biophysical research communications, 515(1), pp. 133-138. Elsevier 10.1016/j.bbrc.2019.05.127

Parween, Shaheena; Rojas Velazquez, Maria Natalia; Udhane, Sameer Sopanrao; Kagawa, Norio; Pandey, Amit Vikram (2019). Variability in Loss of Multiple Enzyme Activities Due to the Human Genetic Variation P284T Located in the Flexible Hinge Region of NADPH Cytochrome P450 Oxidoreductase. Frontiers in Pharmacology, 10, p. 1187. Frontiers 10.3389/fphar.2019.01187

Malikova, Jana; Brixius-Anderko, Simone; Udhane, Sameer Sopanrao; Parween, Shaheena; Dick, Bernhard; Bernhardt, Rita; Pandey, Amit Vikram (2017). CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2. Journal of steroid biochemistry and molecular biology, 174, pp. 192-200. Elsevier 10.1016/j.jsbmb.2017.09.007

Udhane, Sameer Sopanrao; Parween, Shaheena; Kagawa, Norio; Pandey, Amit Vikram (2017). Altered CYP19A1 and CYP3A4 Activities Due to Mutations A115V, T142A, Q153R and P284L in the Human P450 Oxidoreductase. Frontiers in Pharmacology, 8(580), p. 580. Frontiers 10.3389/fphar.2017.00580

Burkhard, Fabian Z; Parween, Shaheena; Udhane, Sameer Sopanrao; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 38-50. Elsevier 10.1016/j.jsbmb.2016.04.003

Parween, Shaheena; Boulez, Florence Roucher; Flück Pandey, Christa Emma; Lienhardt-Roussie, Anne; Mallet, Delphine; Morel, Yves; Pandey, Amit Vikram (2016). P450 Oxidoreductase Deficiency: loss of activity caused by protein instability from a novel L374H mutation. The Journal of clinical endocrinology and metabolism, 101(12), jc.2016-1928. The Endocrine Society 10.1210/jc.2016-1928

Udhane, Sameer S; Parween, Shaheena; Pandey, Amit Vikram (2016). Aromatase Activity is Disrupted by Mutations in P450 Oxidoreductase. Hormone research in paediatrics, 86(Suppl. 1), p. 267. Karger 10.1159/000449142

Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit Vikram; Flück Pandey, Christa Emma; Mullis, Primus-Eugen (2015). IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. Journal of clinical endocrinology and metabolism, 100(12), E1575-E1583. Endocrine Society 10.1210/jc.2015-3265

Peduto, Nadja

Vimercati, Sara; Elli, S; Jagannathan, Vidya; Pandey, Amit Vikram; Peduto, Nadja; Leeb, Tosso; Mevissen, Meike (2019). In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes. Toxicology in vitro, 60, pp. 116-124. Elsevier 10.1016/j.tiv.2019.05.011

Peng, Ren-Wang

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Peng, Shuang

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Perren, Aurel

Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Marti, Nesa Magdalena; Galván, José A.; Pandey, Amit Vikram; Trippel, Mafalda; Tapia, Coya; Müller, Michel; Perren, Aurel; Flück Pandey, Christa Emma (2017). Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome. Molecular and cellular endocrinology, 441, pp. 116-123. Elsevier Ireland 10.1016/j.mce.2016.07.029

Perret, Eveline

Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Petkovic, Vibor

Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Iliev, Daniel I.; Binder, Gerhard; Flück, Christa; Mullis, Primus-Eugen (2013). Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology, 154(11), pp. 4215-4225. Endocrine Society 10.1210/en.2013-1089

Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847

Petkovic, Vibor; Eblé, Andrée; Pandey, Amit V; Betta, Marta; Mella, Patrizia; Flück, Christa E; Buzi, Fabio; Mullis, Primus-Eugen (2011). A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. Growth hormone & IGF research, 21(3), pp. 160-6. Oxford: Elsevier 10.1016/j.ghir.2011.04.002

Petkovic, Vibor; Godi, Michela; Pandey, Amit V; Lochmatter, Didier; Buchanan, Charles R; Dattani, Mehul T; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2010). Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. Journal of clinical endocrinology and metabolism, 95(2), pp. 731-9. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2009-1247

Pfeiffer, Verena

Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002

Pignatti, Emanuele

Pignatti, Emanuele; Kollar, Jakub; Hafele, Evelyn; Schuster, Daniela; Steele, Ronald E; Vogt, Bruno; Schumacher, Christoph; Groessl, Michael (2023). Structural and Clinical Characterization of CYP11B2 Inhibition by Dexfadrostat Phosphate. The journal of steroid biochemistry and molecular biology, 235(106409), p. 106409. Elsevier 10.1016/j.jsbmb.2023.106409

Pignatti, Emanuele; Du Toit, Therina; Flück, Christa E (2023). Development and function of the fetal adrenal. Reviews in endocrine and metabolic disorders, 24(1), pp. 5-21. Springer 10.1007/s11154-022-09756-3

Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076

Pignatti, Emanuele; Flück, Christa E. (2021). Adrenal cortex development and related disorders leading to adrenal insufficiency. Molecular and cellular endocrinology, 527, p. 111206. Elsevier Ireland 10.1016/j.mce.2021.111206

Cohen, Michal; Pignatti, Emanuele; Dines, Monica; Mory, Adi; Ekhilevitch, Nina; Kolodny, Rachel; Flück, Christa E.; Tiosano, Dov (2020). In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. International journal of molecular sciences, 21(16) MDPI 10.3390/ijms21165857

Prost, Jean-Christophe

Mathis, Déborah; Prost, Jean-Christophe; Maeder, Gabriela; Arackal, Liya; Zhang, Haoyue; Kurth, Sandra; Freiburghaus, Katrin; Nuoffer, Jean-Marc (2024). Specific GAG ratios in the diagnosis of mucopolysaccharidoses. JIMD reports, 65(2), pp. 116-123. Wiley 10.1002/jmd2.12412

Redmond, Shelagh

Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002

Riether, Carsten

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Rihs, Silvia

Parween, Shaheena; Rihs, Silvia; Flück, Christa E. (2020). Metformin inhibits the activation of melanocortin receptors 2 and 3 in vitro: A possible mechanism for its anti-androgenic and weight balancing effects in vivo? The journal of steroid biochemistry and molecular biology, 200, p. 105684. Elsevier 10.1016/j.jsbmb.2020.105684

Rodríguez Castaño, Patricia

Jensen, Simon Bo; Thodberg, Sara; Parween, Shaheena; Moses, Matias E.; Hansen, Cecilie C.; Thomsen, Johannes; Sletfjerding, Magnus B.; Knudsen, Camilla; Del Giudice, Rita; Lund, Philip M.; Castaño, Patricia R.; Bustamante, Yanet G.; Rojas Velazquez, Maria Natalia; Jørgensen, Flemming Steen; Pandey, Amit Vikram; Laursen, Tomas; Møller, Birger Lindberg; Hatzakis, Nikos S. (2021). Biased cytochrome P450-mediated metabolism via small-molecule ligands binding P450 oxidoreductase. Nature Communications, 12(1), p. 2260. Springer Nature 10.1038/s41467-021-22562-w

Rodríguez Castaño, Patricia; Parween, Shaheena; Pandey, Amit Vikram (2019). Bioactivity of Curcumin on the Cytochrome P450 Enzymes of the Steroidogenic Pathway. International journal of molecular sciences, 20(18) Molecular Diversity Preservation International MDPI 10.3390/ijms20184606

Rojas Velazquez, Maria Natalia

Rojas Velazquez, Maria Natalia; Therkelsen, Søren; Pandey, Amit V (2023). Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays. Biomolecules, 13(12) MDPI 10.3390/biom13121728

Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349

Rojas Velazquez, Maria Natalia; Noebauer, Mathias; Pandey, Amit Vikram (2022). Loss of Protein Stability and Function Caused by P228L Variation in NADPH-Cytochrome P450 Reductase Linked to Lower Testosterone Levels. International journal of molecular sciences, 23(17) MDPI 10.3390/ijms231710141

Wróbel, Tomasz M; Rogova, Oksana; Sharma, Katyayani; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram; Jørgensen, Flemming Steen; Arendrup, Frederic S; Andersen, Kasper L; Björkling, Fredrik (2022). Synthesis and Structure-Activity Relationships of Novel Non-Steroidal CYP17A1 Inhibitors as Potential Prostate Cancer Agents. Biomolecules, 12(2) MDPI 10.3390/biom12020165

Jensen, Simon Bo; Thodberg, Sara; Parween, Shaheena; Moses, Matias E.; Hansen, Cecilie C.; Thomsen, Johannes; Sletfjerding, Magnus B.; Knudsen, Camilla; Del Giudice, Rita; Lund, Philip M.; Castaño, Patricia R.; Bustamante, Yanet G.; Rojas Velazquez, Maria Natalia; Jørgensen, Flemming Steen; Pandey, Amit Vikram; Laursen, Tomas; Møller, Birger Lindberg; Hatzakis, Nikos S. (2021). Biased cytochrome P450-mediated metabolism via small-molecule ligands binding P450 oxidoreductase. Nature Communications, 12(1), p. 2260. Springer Nature 10.1038/s41467-021-22562-w

Flück, Christa E.; Parween, Shaheena; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram (2020). Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 117(26), pp. 14632-14633. National Academy of Sciences NAS 10.1073/pnas.2003154117

Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück Pandey, Christa Emma; Audí, Laura; Pandey, Amit Vikram (2020). Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. The journal of clinical endocrinology and metabolism, 105(4), e1272-e1290. Oxford University Press 10.1210/clinem/dgaa076

Rojas Velazquez, Maria Natalia; Parween, Shaheena; Udhane, Sameer Sopanrao; Pandey, Amit Vikram (2019). Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase. Biochemical and biophysical research communications, 515(1), pp. 133-138. Elsevier 10.1016/j.bbrc.2019.05.127

Parween, Shaheena; Rojas Velazquez, Maria Natalia; Udhane, Sameer Sopanrao; Kagawa, Norio; Pandey, Amit Vikram (2019). Variability in Loss of Multiple Enzyme Activities Due to the Human Genetic Variation P284T Located in the Flexible Hinge Region of NADPH Cytochrome P450 Oxidoreductase. Frontiers in Pharmacology, 10, p. 1187. Frontiers 10.3389/fphar.2019.01187

Rusca, Nicola

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Rössler, Jochen Karl

Schneider, Christine; Zingg, Tanja; Slavova, Nedelina; Diepold, Miriam; Xydias, Theodoros; Flück, Christa E.; Rössler, Jochen Karl (2019). Schwere Komplikationen einer beta-Thalassaemia major. Swiss Medical Forum, 19(49-50), pp. 818-821. EMH Swiss Medical Publishers 10.4414/smf.2019.08327

Sadowski, Martin

Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3), pp. 646-659. Wiley 10.1002/hep.32247

Salemi, Souzan

Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838

Saner, Christoph

Agbaje, Andrew O; Saner, Christoph; Zhang, Jie; Henderson, Mélanie; Tuomainen, Tomi-Pekka (2024). DEXA-based Fat Mass with the Risk of Worsening Insulin Resistance in Adolescents: A 9-Year Temporal and Mediation Study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae004

Zhang, Hanyue; Senior, Alistair M; Saner, Christoph; Olsen, Nanna J; Larsen, Sofus C; Simpson, Stephen J; Raubenheimer, David; Heitmann, Berit L (2023). Evidence for the protein leverage hypothesis in preschool children prone to obesity. Clinical nutrition, 42(11), pp. 2249-2257. Elsevier 10.1016/j.clnu.2023.09.025

Zhu, Yanshan; Almeida, Flávia Jacqueline; Baillie, J Kenneth; Bowen, Asha C; Britton, Philip N; Brizuela, Martin Eduardo; Buonsenso, Danilo; Burgner, David; Chew, Keng Yih; Chokephaibulkit, Kulkanya; Cohen, Cheryl; Cormier, Stephania A; Crawford, Nigel; Curtis, Nigel; Farias, Camila G A; Gilks, Charles F; von Gottberg, Anne; Hamer, Diana; Jarovsky, Daniel; Jassat, Waasila; ... (2023). International Pediatric COVID-19 Severity Over the Course of the Pandemic. JAMA pediatrics, 177(10), pp. 1073-1084. American Medical Association 10.1001/jamapediatrics.2023.3117

Mansell, Toby; Bekkering, Siroon; Longmore, Danielle; Magnussen, Costan G; Vlahos, Amanda; Harcourt, Brooke E; McCallum, Zoe; Kao, Kung-Ting; Sabin, Matthew A; Juonala, Markus; Saffery, Richard; Burgner, David P; Saner, Christoph (2023). Change in adiposity is associated with change in glycoprotein acetyls but not hsCRP in adolescents with severe obesity. Obesity research & clinical practice, 17(4), pp. 343-348. Elsevier 10.1016/j.orcp.2023.08.003

Saner, Christoph; Senior, Alistair M; Zhang, Hanyue; Eloranta, Aino-Maija; Magnussen, Costan G; Sabin, Matthew A; Juonala, Markus; Janner, Marco; Burgner, David P; Schwab, Ursula; Haapala, Eero A; Heitmann, Berit L; Simpson, Stephen J; Raubenheimer, David; Lakka, Timo A (2023). Evidence for protein leverage in a general population sample of children and adolescents. European journal of clinical nutrition, 77(6), pp. 652-659. Springer Nature 10.1038/s41430-023-01276-w

Calvert, Clara; Brockway, Meredith Merilee; Zoega, Helga; Miller, Jessica E; Been, Jasper V; Amegah, Adeladza Kofi; Racine-Poon, Amy; Oskoui, Solmaz Eradat; Abok, Ishaya I; Aghaeepour, Nima; Akwaowo, Christie D; Alshaikh, Belal N; Ayede, Adejumoke I; Bacchini, Fabiana; Barekatain, Behzad; Barnes, Rodrigo; Bebak, Karolina; Berard, Anick; Bhutta, Zulfiqar A; Brook, Jeffrey R; ... (2023). Changes in preterm birth and stillbirth during COVID-19 lockdowns in 26 countries. Nature human behaviour, 7(4), pp. 529-544. Springer Nature 10.1038/s41562-023-01522-y

Janner, Marco; Saner, Christoph (2022). Impact of Type 1 Diabetes Mellitus on Bone Health in Children. Hormone research in paediatrics, 95(3), pp. 205-214. Karger 10.1159/000521627

Saner, Christoph; Flück, Christa E (2022). Normale und gestörte Pubertät: Diagnostik und Therapie. In: Costa, Serban-Dan; Scharl, Anton; Stute, Petra; Janni, Wolfgang (eds.) Die Gynäkologie. Springer Reference Medizin (pp. 1-13). Berlin, Heidelberg: Springer 10.1007/978-3-662-47329-0_13-1

Madhavarapu, Abhinav; Zacharin, Margaret; Flück, Christa E; Saner, Christoph (2022). Adherence to Growth Hormone-Determined by a Consensual, Center-Based Supply-Associates with Height Outcomes in Youth. Archives of Pediatrics, 7(2) Gavin Publishers 10.29011/2575-825X.100218

Longmore, Danielle K; Miller, Jessica E; Bekkering, Siroon; Saner, Christoph; Mifsud, Edin; Zhu, Yanshan; Saffery, Richard; Nichol, Alistair; Colditz, Graham; Short, Kirsty R; Burgner, David P (2021). Diabetes and Overweight/Obesity Are Independent, Nonadditive Risk Factors for In-Hospital Severity of COVID-19: An International, Multicenter Retrospective Meta-analysis. Diabetes care, 44(6), pp. 1281-1290. American Diabetes Association 10.2337/dc20-2676

Saner, Christoph; Laitinen, Tomi T.; Nuotio, Joel; Arnup, Sarah J.; Harcourt, Brooke E.; Bekkering, Siroon; McCallum, Zoe; Kao, Kung-Ting; Janner, Marco; Magnussen, Costan G.; Sabin, Matthew A.; Juonala, Markus; Burgner, David P. (2021). Modest decrease in severity of obesity in adolescence associates with low arterial stiffness. Atherosclerosis, 335, pp. 23-30. Elsevier 10.1016/j.atherosclerosis.2021.09.013

Stock, Sarah J.; Zoega, Helga; Brockway, Meredith; Mulholland, Rachel H.; Miller, Jessica E.; Been, Jasper V.; Wood, Rachael; Abok, Ishaya I.; Alshaikh, Belal; Ayede, Adejumoke I.; Bacchini, Fabiana; Bhutta, Zulfiqar A.; Brew, Bronwyn K.; Brook, Jeffrey; Calvert, Clara; Campbell-Yeo, Marsha; Chan, Deborah; Chirombo, James; Connor, Kristin L.; Daly, Mandy; ... (2021). The international Perinatal Outcomes in the Pandemic (iPOP) study: protocol. Wellcome open research, 6, p. 21. Wellcome Trust 10.12688/wellcomeopenres.16507.1

Santi, Maristella

Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075

Santi, Maristella; Flück Pandey, Christa E.; Hauschild, Michael; Kuhlmann, Beatrice; Kuehni, Claudia E.; Sommer, Grit (2021). Health behavior of women with Turner Syndrome. Acta paediatrica, 110(8), pp. 2424-2429. Wiley 10.1111/apa.15814

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Santi, Maristella; Boettcher, Claudia (2020). Le retard pubertaire chez la fille. Journal für gynäkologische Endokrinologie/Schweiz, 23(1), pp. 18-24. Springer 10.1007/s41975-020-00133-4

Sauter, Kay

Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251

Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515

Sauter, Kay Sara

Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915

Schaller, André

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374

Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück Pandey, Christa Emma (2018). Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics, 26(9), pp. 1329-1338. Nature Publishing Group 10.1038/s41431-018-0202-7

Konrad, Martin; Schaller, André; Seelow, Dominik; Pandey, Amit Vikram; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; ... (2006). Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. American journal of human genetics, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617

Schindler, Matthias

Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002

Schmid, Ralph

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Schneider, Christine

Schneider, Christine; Zingg, Tanja; Slavova, Nedelina; Diepold, Miriam; Xydias, Theodoros; Flück, Christa E.; Rössler, Jochen Karl (2019). Schwere Komplikationen einer beta-Thalassaemia major. Swiss Medical Forum, 19(49-50), pp. 818-821. EMH Swiss Medical Publishers 10.4414/smf.2019.08327

Seiler, Kristina

Humbert, Magali; Seiler, Kristina; Mosimann, Severin; Rentsch, Vreni; Sharma, Katyayani; Pandey, Amit Vikram; McKenna, Sharon L.; Tschan, Mario P. (2021). Reducing FASN expression sensitizes acute myeloid leukemia cells to differentiation therapy. Cell death and differentiation, 28(8), pp. 2465-2481. Springer Nature 10.1038/s41418-021-00768-1

Semmo, Mariam

Anderegg, Manuel A.; Dhayat, Nasser A.; Sommer, Grit; Semmo, Mariam; Huynh-Do, Uyen; Vogt, Bruno; Fuster, Daniel G. (2020). Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan. Kidney medicine, 2(2), pp. 162-171. Elsevier 10.1016/j.xkme.2019.11.008

Sharma, Katyayani

Sharma, Katyayani; Lanzilotto, Angelo; Yakubu, Jibira; Therkelsen, Søren; Vöegel, Clarissa Daniela; Du Toit, Therina; Jørgensen, Flemming Steen; Pandey, Amit V. (2024). Effect of Essential Oil Components on the Activity of Steroidogenic Cytochrome P450. Biomolecules, 14(2), p. 203. MDPI 10.3390/biom14020203

Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349

Wróbel, Tomasz M; Jørgensen, Flemming Steen; Pandey, Amit V; Grudzińska, Angelika; Sharma, Katyayani; Yakubu, Jibira; Björkling, Fredrik (2023). Non-steroidal CYP17A1 Inhibitors: Discovery and Assessment. Journal of medicinal chemistry, 66(10), pp. 6542-6566. American Chemical Society 10.1021/acs.jmedchem.3c00442

Wróbel, Tomasz M; Rogova, Oksana; Sharma, Katyayani; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram; Jørgensen, Flemming Steen; Arendrup, Frederic S; Andersen, Kasper L; Björkling, Fredrik (2022). Synthesis and Structure-Activity Relationships of Novel Non-Steroidal CYP17A1 Inhibitors as Potential Prostate Cancer Agents. Biomolecules, 12(2) MDPI 10.3390/biom12020165

Humbert, Magali; Seiler, Kristina; Mosimann, Severin; Rentsch, Vreni; Sharma, Katyayani; Pandey, Amit Vikram; McKenna, Sharon L.; Tschan, Mario P. (2021). Reducing FASN expression sensitizes acute myeloid leukemia cells to differentiation therapy. Cell death and differentiation, 28(8), pp. 2465-2481. Springer Nature 10.1038/s41418-021-00768-1

Simon, Hans-Uwe

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

Singhal, Palak

Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007

Slavova, Nedelina Bozhidarova

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Schneider, Christine; Zingg, Tanja; Slavova, Nedelina; Diepold, Miriam; Xydias, Theodoros; Flück, Christa E.; Rössler, Jochen Karl (2019). Schwere Komplikationen einer beta-Thalassaemia major. Swiss Medical Forum, 19(49-50), pp. 818-821. EMH Swiss Medical Publishers 10.4414/smf.2019.08327

Sommer, Grit

Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251

Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941

Strebel, Sven; Baust, Katja; Grabow, Desiree; Byrne, Julianne; Langer, Thorsten; Am Zehnhoff-Dinnesen, Antoinette; Kuonen, Rahel; Weiss, Annette; Kepak, Tomas; Kruseova, Jarmila; Berger, Claire; Calaminus, Gabriele; Sommer, Grit; Kuehni, Claudia E (2023). Auditory complications among childhood cancer survivors and health-related quality of life: a PanCareLIFE study. (In Press). Journal of Cancer Survivorship Springer 10.1007/s11764-023-01456-4

Roser, Katharina; Baenziger, Julia; Ilic, Anica; Mitter, Vera R; Mader, Luzius; Dyntar, Daniela; Michel, Gisela; Sommer, Grit (2023). Health-related quality of life before and during the COVID-19 pandemic in Switzerland: a cross-sectional study. Quality of life research, 32(9), pp. 2695-2706. Springer 10.1007/s11136-023-03414-0

Malesevic, Stefan; Sievi, Noriane A; Baumgartner, Patrick; Roser, Katharina; Sommer, Grit; Schmidt, Dörthe; Vallelian, Florence; Jelcic, Ilijas; Clarenbach, Christian F; Kohler, Malcolm (2023). Impaired health-related quality of life in long-COVID syndrome after mild to moderate COVID-19. Scientific Reports, 13(1), p. 7717. Nature Publishing Group 10.1038/s41598-023-34678-8

Raftopoulou, Christina; Abawi, Ozair; Sommer, Grit; Binou, Maria; Paltoglou, George; Flück, Christa E; van den Akker, Erica L T; Charmandari, E (2023). Leukocyte Telomere Length in Children with Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 108(2), pp. 443-452. Oxford University Press 10.1210/clinem/dgac560

Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E. (2023). Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity. Hormone research in paediatrics, 96(2), pp. 169-179. Karger 10.1159/000519691

van Iersel, Laura; Mulder, Renee L; Denzer, Christian; Cohen, Laurie E; Spoudeas, Helen A; Meacham, Lillian R; Sugden, Elaine; Schouten-van Meeteren, Antoinette Y N; Hoving, Eelco W; Packer, Roger J; Armstrong, Gregory T; Mostoufi-Moab, Sogol; Stades, Aline M; van Vuurden, Dannis; Janssens, Geert O; Thomas-Teinturier, Cécile; Murray, Robert D; Di Iorgi, Natascia; Neggers, Sebastian J C M M; Thompson, Joel; ... (2022). Hypothalamic-Pituitary and Other Endocrine Surveillance Among Childhood Cancer Survivors. Endocrine reviews, 43(5), pp. 794-823. Oxford University Press 10.1210/endrev/bnab040

Dennig, Michelle J; Sommer, Grit; Zingg, Tanja; Flück, Christa E; Böttcher, Claudia (2022). Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study. Journal of diabetes research, 2022(3170558), p. 3170558. Hindawi 10.1155/2022/3170558

Ilic, Anica; Roser, Katharina; Sommer, Grit; Baenziger, Julia; Mitter, Vera Ruth; Mader, Luzius; Dyntar, Daniela; Michel, Gisela (2022). COVID-19 Information-Seeking, Health Literacy, and Worry and Anxiety During the Early Stage of the Pandemic in Switzerland: A Cross-Sectional Study. International journal of public health, 67, p. 1604717. Frontiers 10.3389/ijph.2022.1604717

Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075

Troger, Tobias; Sommer, Grit; Lang-Muritano, Mariarosaria; Konrad, Daniel; Kuhlmann, Beatrice; Zumsteg, Urs; Flück, Christa E. (2022). Characteristics of growth in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond. The journal of clinical endocrinology and metabolism, 107(2), e487-e499. Oxford University Press 10.1210/clinem/dgab701

Santi, Maristella; Flück Pandey, Christa E.; Hauschild, Michael; Kuhlmann, Beatrice; Kuehni, Claudia E.; Sommer, Grit (2021). Health behavior of women with Turner Syndrome. Acta paediatrica, 110(8), pp. 2424-2429. Wiley 10.1111/apa.15814

Calaminus, Gabriele; Baust, Katja; Berger, Claire; Byrne, Julianne; Binder, Harald; Casagranda, Leonie; Grabow, Desiree; Grootenhuis, Martha; Kaatsch, Peter; Kaiser, Melanie; Kepak, Tomas; Kepáková, Kateřina; Kremer, Leontien C M; Kruseova, Jarmila; Luks, Ales; Spix, Claudia; van den Berg, Marleen; van den Heuvel-Eibrink, Marry M M; van Dulmen-den Broeder, Eline; Kuonen, Rahel; ... (2021). Health-Related Quality of Life in European Childhood Cancer Survivors: Protocol for a Study Within PanCareLIFE. JMIR research protocols, 10(1), e21851. JMIR Publications 10.2196/21851

Minger, M; Sommer, G; Mitter, V; Purtschert, L; von Wolff, M; Kohl Schwartz, Alexandra (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Zeitschrift für Geburtshilfe und Neonatologie, 225(Suppl 1), e48-e48. Thieme

Minger, M.; Sommer, G.; Mitter, V.; Purtschert, L.; von Wolff, M.; Kohl Schwartz, A. (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Human reproduction, 36(Suppl 1), i487-i487. Oxford University Press 10.1093/humrep/deab130.767

Janner, Marco; Sommer, Grit; Groessl, Michael; Flück, Christa E. (2020). Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities. Journal of clinical endocrinology and metabolism, 105(12), e4439-e4451. Endocrine Society 10.1210/clinem/dgaa598

Boettcher, Claudia; Sommer, Grit; Peitzsch, Mirko; Zimmer, Klaus-Peter; Eisenhofer, Graeme; Wudy, Stefan A (2020). Differential Responses of Urinary Epinephrine and Norepinephrine to 24-h Shift-Work Stressor in Physicians. Frontiers in endocrinology, 11, p. 572461. Frontiers Research Foundation 10.3389/fendo.2020.572461

Sävendahl, Lars; Cooke, Rosie; Tidblad, Anders; Beckers, Dominique; Butler, Gary; Cianfarani, Stefano; Clayton, Peter; Coste, Joël; Hokken-Koelega, Anita C S; Kiess, Wieland; Kuehni, Claudia E; Albertsson-Wikland, Kerstin; Deodati, Annalisa; Ecosse, Emmanuel; Gausche, Ruth; Giacomozzi, Claudio; Konrad, Daniel; Landier, Fabienne; Pfaeffle, Roland; Sommer, Grit; ... (2020). Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study. The lancet. Diabetes & endocrinology, 8(8), pp. 683-692. Elsevier 10.1016/S2213-8587(20)30163-7

Anderegg, Manuel A.; Dhayat, Nasser A.; Sommer, Grit; Semmo, Mariam; Huynh-Do, Uyen; Vogt, Bruno; Fuster, Daniel G. (2020). Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan. Kidney medicine, 2(2), pp. 162-171. Elsevier 10.1016/j.xkme.2019.11.008

Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002

Roser, Katharina; Mader, Luzius; Baenziger, Julia; Sommer, Grit; Kuehni, Claudia E.; Michel, Gisela (2019). Health-related quality of life in Switzerland: normative data for the SF-36v2 questionnaire. Quality of life research, 28(7), pp. 1963-1977. Springer 10.1007/s11136-019-02161-5

Strasser, Marco Alexander

Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153

Strebel, Sven

Strebel, Sven; Baust, Katja; Grabow, Desiree; Byrne, Julianne; Langer, Thorsten; Am Zehnhoff-Dinnesen, Antoinette; Kuonen, Rahel; Weiss, Annette; Kepak, Tomas; Kruseova, Jarmila; Berger, Claire; Calaminus, Gabriele; Sommer, Grit; Kuehni, Claudia E (2023). Auditory complications among childhood cancer survivors and health-related quality of life: a PanCareLIFE study. (In Press). Journal of Cancer Survivorship Springer 10.1007/s11764-023-01456-4

Stute, Petra

von Wolff, Michael; Kollmann, Zahraa; Flück, Christa E.; Stute, Petra; Marti, U.; Weiss, B.; Bersinger, Nick A. (2014). Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF. Human reproduction, 29(5), pp. 1049-1057. Oxford University Press 10.1093/humrep/deu044

Tinkhauser, Gerd

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Trappetti, Verdiana

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Trippel, Mafalda Arasceli

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Troger, Tobias

Troger, Tobias; Sommer, Grit; Lang-Muritano, Mariarosaria; Konrad, Daniel; Kuhlmann, Beatrice; Zumsteg, Urs; Flück, Christa E. (2022). Characteristics of growth in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond. The journal of clinical endocrinology and metabolism, 107(2), e487-e499. Oxford University Press 10.1210/clinem/dgab701

Trueb, Beat

Zhuang, Lei; Pandey, Amit Vikram; Villiger, Peter; Trueb, Beat (2015). Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells. Biochimica et biophysica acta - molecular cell research, 1853(10 Pt A), pp. 2273-2285. Elsevier 10.1016/j.bbamcr.2015.05.027

Tschan, Mario

Humbert, Magali; Seiler, Kristina; Mosimann, Severin; Rentsch, Vreni; Sharma, Katyayani; Pandey, Amit Vikram; McKenna, Sharon L.; Tschan, Mario P. (2021). Reducing FASN expression sensitizes acute myeloid leukemia cells to differentiation therapy. Cell death and differentiation, 28(8), pp. 2465-2481. Springer Nature 10.1038/s41418-021-00768-1

Tschumi, Sibylle

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Udhane, Sameer Sopanrao

Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück Pandey, Christa Emma; Audí, Laura; Pandey, Amit Vikram (2020). Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. The journal of clinical endocrinology and metabolism, 105(4), e1272-e1290. Oxford University Press 10.1210/clinem/dgaa076

Rojas Velazquez, Maria Natalia; Parween, Shaheena; Udhane, Sameer Sopanrao; Pandey, Amit Vikram (2019). Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase. Biochemical and biophysical research communications, 515(1), pp. 133-138. Elsevier 10.1016/j.bbrc.2019.05.127

Parween, Shaheena; Rojas Velazquez, Maria Natalia; Udhane, Sameer Sopanrao; Kagawa, Norio; Pandey, Amit Vikram (2019). Variability in Loss of Multiple Enzyme Activities Due to the Human Genetic Variation P284T Located in the Flexible Hinge Region of NADPH Cytochrome P450 Oxidoreductase. Frontiers in Pharmacology, 10, p. 1187. Frontiers 10.3389/fphar.2019.01187

Malikova, Jana; Brixius-Anderko, Simone; Udhane, Sameer Sopanrao; Parween, Shaheena; Dick, Bernhard; Bernhardt, Rita; Pandey, Amit Vikram (2017). CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2. Journal of steroid biochemistry and molecular biology, 174, pp. 192-200. Elsevier 10.1016/j.jsbmb.2017.09.007

Udhane, Sameer Sopanrao; Parween, Shaheena; Kagawa, Norio; Pandey, Amit Vikram (2017). Altered CYP19A1 and CYP3A4 Activities Due to Mutations A115V, T142A, Q153R and P284L in the Human P450 Oxidoreductase. Frontiers in Pharmacology, 8(580), p. 580. Frontiers 10.3389/fphar.2017.00580

Burkhard, Fabian Z; Parween, Shaheena; Udhane, Sameer Sopanrao; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 38-50. Elsevier 10.1016/j.jsbmb.2016.04.003

Udhane, Sameer Sopanrao; Dick, Bernhard; Hu, Qingzhong; Hartmann, Rolf W; Pandey, Amit Vikram (2016). Specificity of anti-prostate cancer CYP17A1 inhibitors on androgen biosynthesis. Biochemical and biophysical research communications, 477(4), pp. 1005-1010. Academic Press 10.1016/j.bbrc.2016.07.019

Udhane, Sameer S; Parween, Shaheena; Pandey, Amit Vikram (2016). Aromatase Activity is Disrupted by Mutations in P450 Oxidoreductase. Hormone research in paediatrics, 86(Suppl. 1), p. 267. Karger 10.1159/000449142

Udhane, Sameer Sopanrao; Pandey, Amit Vikram; Hofer, Gaby; Mullis, Primus-Eugen; Flück Pandey, Christa Emma (2015). Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis. Scientific Reports, 5, p. 10132. Nature Publishing Group 10.1038/srep10132

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Fernández, Juan M.; Ortega, Ana M.; Udhane, Sameer Sopanrao; Andaluz, Pilar; Audí, Laura; Flück Pandey, Christa Emma (2014). STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases. Clinical endocrinology, 80(2), pp. 191-199. Blackwell Scientific Publications 10.1111/cen.12293

Udhane, Sameer Sopanrao; Kempna, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa (2013). Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. PLoS ONE, 8(7), e68691. Public Library of Science 10.1371/journal.pone.0068691

Urzì, Christian

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Urzì, Christian; Meyer, Christoph; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Methods for Oxygen Determination in an NMR Bioreactor as a Surrogate Marker for Metabolomic Studies in Living Cell Cultures. Analytical chemistry, 95(48), pp. 17486-17493. American Chemical Society 10.1021/acs.analchem.3c02314

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Urzì, Christian; Hertig, Damian; Meyer, Christoph; Maddah, Sally; Nuoffer, Jean-Marc; Vermathen, Peter (2022). Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR. International journal of molecular sciences, 23(12), p. 6555. MDPI 10.3390/ijms23126555

Verma, Sonia

Verma, Sonia; Chakraborti, Soumyananda; Singh, Om P.; Pande, Veena; Dixit, Rajnikant; Pandey, Amit V; Pandey, Kailash C. (2022). Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family. Frontiers in endocrinology, 13, p. 981090. Frontiers Research Foundation 10.3389/fendo.2022.981090

Vermathen, Martina

Vermathen, Martina; Kämpfer, Tobias; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Intracellular Fate of the Photosensitizer Chlorin e4 with Different Carriers and Induced Metabolic Changes Studied by 1H NMR Spectroscopy. Pharmaceutics, 15(9) MDPI 10.3390/pharmaceutics15092324

Vermathen, Peter

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Urzì, Christian; Meyer, Christoph; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Methods for Oxygen Determination in an NMR Bioreactor as a Surrogate Marker for Metabolomic Studies in Living Cell Cultures. Analytical chemistry, 95(48), pp. 17486-17493. American Chemical Society 10.1021/acs.analchem.3c02314

Vermathen, Martina; Kämpfer, Tobias; Nuoffer, Jean-Marc; Vermathen, Peter (2023). Intracellular Fate of the Photosensitizer Chlorin e4 with Different Carriers and Induced Metabolic Changes Studied by 1H NMR Spectroscopy. Pharmaceutics, 15(9) MDPI 10.3390/pharmaceutics15092324

Urzì, Christian; Hertig, Damian; Meyer, Christoph; Maddah, Sally; Nuoffer, Jean-Marc; Vermathen, Peter (2022). Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR. International journal of molecular sciences, 23(12), p. 6555. MDPI 10.3390/ijms23126555

Hertig, Damian; Maddah, Sally; Memedovski, Roman; Kurth, Sandra; Moreno, Aitor; Pennestri, Matteo; Felser, Andrea; Nuoffer, Jean-Marc; Vermathen, Peter (2021). Live monitoring of cellular metabolism and mitochondrial respiration in 3D cell culture system using NMR spectroscopy. Analyst, 146(13), pp. 4326-4339. Royal Society of Chemistry 10.1039/d1an00041a

Diez-Fernandez, Carmen; Hertig, Damian; Loup, Marc; Diserens, Gaëlle; Henry, Hugues; Vermathen, Peter; Nuoffer, Jean-Marc; Häberle, Johannes; Braissant, Olivier (2019). Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: an in vitro study in rat 3D organotypic brain cell cultures. Journal of inherited metabolic disease, 42(6), pp. 1077-1087. Wiley 10.1002/jimd.12090

Villiger, Peter

Zhuang, Lei; Pandey, Amit Vikram; Villiger, Peter; Trueb, Beat (2015). Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells. Biochimica et biophysica acta - molecular cell research, 1853(10 Pt A), pp. 2273-2285. Elsevier 10.1016/j.bbamcr.2015.05.027

Vimercati, Sara

Vimercati, Sara; Elli, S; Jagannathan, Vidya; Pandey, Amit Vikram; Peduto, Nadja; Leeb, Tosso; Mevissen, Meike (2019). In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes. Toxicology in vitro, 60, pp. 116-124. Elsevier 10.1016/j.tiv.2019.05.011

Vogt, Bruno

Pignatti, Emanuele; Kollar, Jakub; Hafele, Evelyn; Schuster, Daniela; Steele, Ronald E; Vogt, Bruno; Schumacher, Christoph; Groessl, Michael (2023). Structural and Clinical Characterization of CYP11B2 Inhibition by Dexfadrostat Phosphate. The journal of steroid biochemistry and molecular biology, 235(106409), p. 106409. Elsevier 10.1016/j.jsbmb.2023.106409

Anderegg, Manuel A.; Dhayat, Nasser A.; Sommer, Grit; Semmo, Mariam; Huynh-Do, Uyen; Vogt, Bruno; Fuster, Daniel G. (2020). Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan. Kidney medicine, 2(2), pp. 162-171. Elsevier 10.1016/j.xkme.2019.11.008

Vossenkaul, Anja Maria

Bremova-Ertl, Tatiana; Hofmann, Jan; Stucki, Janine; Vossenkaul, Anja; Gautschi, Matthias (2023). Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. Cells, 12(18) MDPI 10.3390/cells12182314

Vuissoz, Jean-Marc

Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838

Vögel, Clarissa

Sharma, Katyayani; Lanzilotto, Angelo; Yakubu, Jibira; Therkelsen, Søren; Vöegel, Clarissa Daniela; Du Toit, Therina; Jørgensen, Flemming Steen; Pandey, Amit V. (2024). Effect of Essential Oil Components on the Activity of Steroidogenic Cytochrome P450. Biomolecules, 14(2), p. 203. MDPI 10.3390/biom14020203

Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349

Wagner, Franca

Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915

Weiss, Annette Gerda

Strebel, Sven; Baust, Katja; Grabow, Desiree; Byrne, Julianne; Langer, Thorsten; Am Zehnhoff-Dinnesen, Antoinette; Kuonen, Rahel; Weiss, Annette; Kepak, Tomas; Kruseova, Jarmila; Berger, Claire; Calaminus, Gabriele; Sommer, Grit; Kuehni, Claudia E (2023). Auditory complications among childhood cancer survivors and health-related quality of life: a PanCareLIFE study. (In Press). Journal of Cancer Survivorship Springer 10.1007/s11764-023-01456-4

Wiest, Roland Gerhard Rudi

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Xydias, Theodoros

Schneider, Christine; Zingg, Tanja; Slavova, Nedelina; Diepold, Miriam; Xydias, Theodoros; Flück, Christa E.; Rössler, Jochen Karl (2019). Schwere Komplikationen einer beta-Thalassaemia major. Swiss Medical Forum, 19(49-50), pp. 818-821. EMH Swiss Medical Publishers 10.4414/smf.2019.08327

Yakubu, Jibira

Sharma, Katyayani; Lanzilotto, Angelo; Yakubu, Jibira; Therkelsen, Søren; Vöegel, Clarissa Daniela; Du Toit, Therina; Jørgensen, Flemming Steen; Pandey, Amit V. (2024). Effect of Essential Oil Components on the Activity of Steroidogenic Cytochrome P450. Biomolecules, 14(2), p. 203. MDPI 10.3390/biom14020203

Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349

Wróbel, Tomasz M; Jørgensen, Flemming Steen; Pandey, Amit V; Grudzińska, Angelika; Sharma, Katyayani; Yakubu, Jibira; Björkling, Fredrik (2023). Non-steroidal CYP17A1 Inhibitors: Discovery and Assessment. Journal of medicinal chemistry, 66(10), pp. 6542-6566. American Chemical Society 10.1021/acs.jmedchem.3c00442

Zeino, Mazen

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Zhuang, Lei

Zhuang, Lei; Pandey, Amit Vikram; Villiger, Peter; Trueb, Beat (2015). Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells. Biochimica et biophysica acta - molecular cell research, 1853(10 Pt A), pp. 2273-2285. Elsevier 10.1016/j.bbamcr.2015.05.027

Zlobec, Inti

Liu, He; He, Zhaoyue; Germič, Nina; Ademi, Hyrijie; Frangež, Živa; Felser, Andrea; Peng, Shuang; Riether, Carsten; Djonov, Valentin; Nuoffer, Jean-Marc; Bovet, Cédric; Mlinarič-Raščan, Irena; Zlobec, Inti; Fiedler, Georg; Perren, Aurel; Simon, Hans-Uwe (2020). ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Cell death and differentiation, 27(6), pp. 1965-1980. Springer Nature 10.1038/s41418-019-0476-5

du Toit, Therina

Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349

van Geest, Gerrit Adriaan

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

von Wolff, Michael

Minger, M; Sommer, G; Mitter, V; Purtschert, L; von Wolff, M; Kohl Schwartz, Alexandra (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Zeitschrift für Geburtshilfe und Neonatologie, 225(Suppl 1), e48-e48. Thieme

Minger, M.; Sommer, G.; Mitter, V.; Purtschert, L.; von Wolff, M.; Kohl Schwartz, A. (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Human reproduction, 36(Suppl 1), i487-i487. Oxford University Press 10.1093/humrep/deab130.767

von Wolff, Michael; Kollmann, Zahraa; Flück, Christa E.; Stute, Petra; Marti, U.; Weiss, B.; Bersinger, Nick A. (2014). Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF. Human reproduction, 29(5), pp. 1049-1057. Oxford University Press 10.1093/humrep/deu044

This list was generated on Thu Apr 18 02:57:35 2024 CEST.
Provide Feedback