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

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Number of items at this level: 231.

2024

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

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

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

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

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

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

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, 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

2023

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2022

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2021

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].

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2020

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

Clément, Karine; van den Akker, Erica; Argente, Jesús; Bahm, Allison; Chung, Wendy K; Connors, Hillori; De Waele, Kathleen; Farooqi, I Sadaf; Gonneau-Lejeune, Julie; Gordon, Gregory; Kohlsdorf, Katja; Poitou, Christine; Puder, Lia; Swain, James; Stewart, Murray; Yuan, Guojun; Wabitsch, Martin; Kühnen, Peter (2020). Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. The lancet. Diabetes & endocrinology, 8(12), pp. 960-970. Elsevier 10.1016/S2213-8587(20)30364-8

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Zingg, Tanja (April 2020). Endokrine Folgen einer Krebserkrankung im Kindesalter. Leading Opinions. Hämatologie & Onkologie, 2020(4), pp. 39-42. Universimed

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

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

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

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

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

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

2019

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

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

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

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

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

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

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

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

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

2018

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

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

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

2017

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

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

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

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

2016

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

2015

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

2014

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

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

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

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

2013

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; 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

2012

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

2011

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

2010

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

2009

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

2008

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

2007

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

2006

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

2005

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

2004

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

2003

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

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

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

2002

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

2001

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.

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

2000

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

1999

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

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

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

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

1997

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

1996

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

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