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

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2022

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

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

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

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

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 V; 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

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

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 V. (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

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

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

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; ... (2021). Hypothalamic-Pituitary and Other Endocrine Surveillance Among Childhood Cancer Survivors. (In Press). Endocrine reviews Oxford University Press 10.1210/endrev/bnab040

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

Guran, Tulay; Flück Pandey, Christa Emma (2021). Introduction (In Press). Hormone research in paediatrics Karger 10.1159/000519896

Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E. (2021). Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity. (In Press). Hormone research in paediatrics, pp. 279-289. Karger 10.1159/000519691

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 V.; 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 V.; 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, Christa E; 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

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

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 S.; 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

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

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

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

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

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, 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

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

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

2013

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

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

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

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

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

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

2003

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

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.

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

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

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