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Liimatta, Jani; du Toit, Therina; Voegel, Clarissa D; Jääskeläinen, Jarmo; Lakka, Timo A; Flück, Christa E (2024). Multiple androgen pathways contribute to the steroid signature of adrenarche. Molecular and cellular endocrinology, 592(112293), p. 112293. Elsevier Ireland 10.1016/j.mce.2024.112293
Mathis, Déborah; du Toit, Therina; Altinkilic, Emre Murat; Stojkov, Darko; Urzì, Christian; Voegel, Clarissa D; Wu, Vincen; Zamboni, Nicola; Simon, Hans-Uwe; Nuoffer, Jean-Marc; Flück, Christa E; Felser, Andrea (2024). Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells. The journal of steroid biochemistry and molecular biology, 243(106561), p. 106561. Elsevier 10.1016/j.jsbmb.2024.106561
Altinkilic, Emre Murat; Augsburger, Philipp; Pandey, Amit V; Flueck, Christa (2024). Clinical spectrum of human STAR variants and their genotype-phenotype correlation. Journal of endocrinology, 262(3) BioScientifica 10.1530/JOE-24-0078
Breault, David T; Flück, Christa E; Pignatti, Emanuele (2024). Response to Letter to the Editor from Hoekstra: 'Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis'. Endocrinology, 165(10) Oxford University Press 10.1210/endocr/bqae091
Frederiksen, Hanne; Johannsen, Trine Holm; Andersen, Stine Ehlern; Petersen, Jørgen Holm; Busch, Alexander Siegfried; Ljubicic, Marie Lindhardt; Fischer, Margit Bistrup; Upners, Emmie N; Hagen, Casper P; Main, Katharina M; Aksglaede, Lise; Jørgensen, Niels; Lund Kårhus, Line; Linneberg, Allan; Andersson, Anna-Maria; Flück, Christa E; Juul, Anders (2024). Sex- and age-specific reference intervals of 16 steroid metabolites quantified simultaneously by LC-MS/MS in sera from 2458 healthy subjects aged 0 to 77 years. Clinica chimica acta, 562, p. 119852. Elsevier 10.1016/j.cca.2024.119852
Brachet, Cécile; Laemmle, Alexander; Cools, Martine; Sauter, Kay-Sara; De Baere, Elfride; Vanlander, Arnaud; Pandey, Amit V; Du Toit, Therina; Voegel, Clarissa D; Heinrichs, Claudine; Verdin, Hannah; Flück, Christa E (2024). Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. European journal of endocrinology, 191(2), pp. 144-155. Oxford Academic 10.1093/ejendo/lvae090
Øzdemir, Cagla Margit; Nielsen, Mette Mølby; Liimatta, Jani; Voegel, Clarissa D; Naamneh Elzenaty, Rawda; Wasehuus, Victor S; Lind-Holst, Marie; Ornstrup, Marie Juul; Gram, Stine Bjørn; Ousager, Lilian Bomme; Flück, Christa E; Gravholt, Claus H (2024). Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant. Endocrinology, diabetes & metabolism case reports, 2024(3) Bioscientifica 10.1530/EDM-23-0090
Pignatti, Emanuele; Slone, Jesse; Gómez Cano, María Ángeles; Campbell, Teresa Margaret; Vu, Jimmy; Sauter, Kay-Sara; Pandey, Amit V; Martínez-Azorín, Francisco; Alonso-Riaño, Marina; Neilson, Derek E; Longo, Nicola; du Toit, Therina; Voegel, Clarissa D; Huang, Taosheng; Flück, Christa E (2024). FDXR variants cause adrenal insufficiency and atypical sexual development. JCI insight, 9(14) JCI Insight 10.1172/jci.insight.179071
Augsburger, Philipp; Liimatta, Jani; Flück, Christa E (2024). Update on Adrenarche - Still a Mystery. The journal of clinical endocrinology and metabolism, 109(6), pp. 1403-1422. Oxford University Press 10.1210/clinem/dgae008
Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251
Rojas Velazquez, Maria Natalia; Blanco, Fabiola; Ayala-Lugo, Ana; Franco, Lady; Jolly, Valerie; Di Tore, Denisse; Martinez de LaPiscina, Idoia; Janner, Marco; Flück Pandey, Christa E.; Pandey, Amit V. (2024). A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient. International journal of molecular sciences, 25(6), p. 3143. MDPI 10.3390/ijms25063143
Liimatta, Jani; Jääskeläinen, Jarmo; Mäntyselkä, Aino; Häkkinen, Merja R; Auriola, Seppo; Voutilainen, Raimo; Flück Pandey, Christa E; Lakka, Timo A (2024). Accelerated Early Childhood Growth Is Associated With the Development of Earlier Adrenarche and Puberty. Journal of the Endocrine Society, 8(4), bvae026. Oxford University Press 10.1210/jendso/bvae026
Liimatta, Jani; Curschellas, Evelyn; Altinkilic, Emre Murat; Naamneh Elzenaty, Rawda; Augsburger, Philipp; Du Toit, Therina; Voegel, Clarissa D; Breault, David T; Flück, Christa E; Pignatti, Emanuele (2024). Adrenal Abcg1 controls cholesterol flux and steroidogenesis. Endocrinology, 165(3) Oxford University Press 10.1210/endocr/bqae014
Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941
Liimatta, Jani; Flück, Christa E; Mäntyselkä, Aino; Häkkinen, Merja R; Auriola, Seppo; Voutilainen, Raimo; Jääskeläinen, Jarmo; Lakka, Timo A (2023). Effects of 2-year physical activity and dietary intervention on adrenarchal and pubertal development: the PANIC study. The journal of clinical endocrinology and metabolism, 108(12), e1603-e1613. Oxford University Press 10.1210/clinem/dgad367
Altinkilic, Emre Murat; du Toit, Therina; Sakin, Önder; Attar, Rukset; Groessl, Michael; Flück, Christa E. (2023). The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis. The journal of steroid biochemistry and molecular biology, 233, p. 106366. Elsevier 10.1016/j.jsbmb.2023.106366
Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915
Pignatti, Emanuele; Du Toit, Therina; Flück, Christa E (2023). Development and function of the fetal adrenal. Reviews in endocrine and metabolic disorders, 24(1), pp. 5-21. Springer 10.1007/s11154-022-09756-3
Raftopoulou, Christina; Abawi, Ozair; Sommer, Grit; Binou, Maria; Paltoglou, George; Flück, Christa E; van den Akker, Erica L T; Charmandari, E (2023). Leukocyte Telomere Length in Children with Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 108(2), pp. 443-452. Oxford University Press 10.1210/clinem/dgac560
Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E. (2023). Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity. Hormone research in paediatrics, 96(2), pp. 169-179. Karger 10.1159/000519691
Guran, Tulay; Flück Pandey, Christa Emma (2023). Introduction. Hormone research in paediatrics, 96(2), p. 115. Karger 10.1159/000519896
Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515
Mazzi, Sara; Nussbaum, Marie-Lou; Flück, Christa E. (2023). Pediatric Transgender Care: Experience of a Swiss Tertiary Center Over the Past Decade. Archives of Pediatrics, 8(2) Gavin Publishers 10.29011/2575-825X.100281
Flück, Christa E; Kuiri-Hänninen, Tanja; Silvennoinen, Sanna; Sankilampi, Ulla; Groessl, Michael (2022). The androgen metabolome of preterm infants reflects fetal adrenal gland involution. The journal of clinical endocrinology and metabolism, 107(11), pp. 3111-3119. Oxford University Press 10.1210/clinem/dgac482
Dennig, Michelle J; Sommer, Grit; Zingg, Tanja; Flück, Christa E; Böttcher, Claudia (2022). Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study. Journal of diabetes research, 2022(3170558), p. 3170558. Hindawi 10.1155/2022/3170558
Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076
Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075
Na'Amneh Elzenaty, Rawda; Du Toit, Therina; Flück, Christa (2022). Basics of androgen synthesis and action. Best practice & research. Clinical endocrinology & metabolism, 36(4), p. 101665. Elsevier 10.1016/j.beem.2022.101665
Wabitsch, Martin; Farooqi, Sadaf; Flück, Christa E; Bratina, Natasa; Mallya, Usha G; Stewart, Murray; Garrison, Jill; van den Akker, Erica; Kühnen, Peter (2022). Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide. Journal of the Endocrine Society, 6(6), bvac057. Oxford University Press 10.1210/jendso/bvac057
Troger, Tobias; Sommer, Grit; Lang-Muritano, Mariarosaria; Konrad, Daniel; Kuhlmann, Beatrice; Zumsteg, Urs; Flück, Christa E. (2022). Characteristics of growth in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond. The journal of clinical endocrinology and metabolism, 107(2), e487-e499. Oxford University Press 10.1210/clinem/dgab701
Claahsen-van der Grinten, Hedi L; Speiser, Phyllis W; Ahmed, S Faisal; Arlt, Wiebke; Auchus, Richard J; Falhammar, Henrik; Flück, Christa E; Guasti, Leonardo; Huebner, Angela; Kortmann, Barbara B M; Krone, Nils; Merke, Deborah P; Miller, Walter L; Nordenström, Anna; Reisch, Nicole; Sandberg, David E; Stikkelbroeck, Nike M M L; Touraine, Philippe; Utari, Agustini; Wudy, Stefan A; ... (2022). Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management. Endocrine reviews, 43(1), pp. 91-159. Oxford University Press 10.1210/endrev/bnab016
Boettcher, Claudia; Flück, Christa E. (2022). Rare forms of genetic steroidogenic defects affecting the gonads and adrenals. Best practice & research. Clinical endocrinology & metabolism, 36(1), p. 101593. Elsevier 10.1016/j.beem.2021.101593
Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551
Saner, Christoph; Flück, Christa E (2022). Normale und gestörte Pubertät: Diagnostik und Therapie. In: Costa, Serban-Dan; Scharl, Anton; Stute, Petra; Janni, Wolfgang (eds.) Die Gynäkologie. Springer Reference Medizin (pp. 1-13). Berlin, Heidelberg: Springer 10.1007/978-3-662-47329-0_13-1
Madhavarapu, Abhinav; Zacharin, Margaret; Flück, Christa E; Saner, Christoph (2022). Adherence to Growth Hormone-Determined by a Consensual, Center-Based Supply-Associates with Height Outcomes in Youth. Archives of Pediatrics, 7(2) Gavin Publishers 10.29011/2575-825X.100218
Martinez de LaPiscina, Idoia; Flück, Christa E. (2021). Genetics of human sexual development and related disorders. Current opinion in pediatrics, 33(6), pp. 556-563. Wolters Kluwer Health 10.1097/MOP.0000000000001066
Puder, Lia; Roth, Sophie; Krabusch, Philipp; Wiegand, Susanna; Opitz, Robert; Bald, Martin; Flück, Christa; Schulz, Esther; Voss, Egbert; Markó, Lajos; Linz, Peter; Berger, Felix; Müller, Dominik N; Kuehne, Titus; Litt, Michael J; Cone, Roger D; Kühnen, Peter; Kelm, Marcus (2021). Cardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System. The journal of clinical endocrinology and metabolism, 106(9), pp. 2606-2616. Oxford University Press 10.1210/clinem/dgab368
Santi, Maristella; Flück Pandey, Christa E.; Hauschild, Michael; Kuhlmann, Beatrice; Kuehni, Claudia E.; Sommer, Grit (2021). Health behavior of women with Turner Syndrome. Acta paediatrica, 110(8), pp. 2424-2429. Wiley 10.1111/apa.15814
Poitou, Christine; Puder, Lia; Dubern, Beatrice; Krabusch, Philipp; Genser, Laurent; Wiegand, Susanna; Verkindt, Hélène; Köhn, Arvid; von Schwartzenberg, Reiner Jumpertz; Flück, Christa; Pattou, François; Laville, Martine; Kühnen, Peter; Clément, Karine (2021). Long-term outcomes of bariatric surgery in patients with bi-allelic mutations in the POMC, LEPR, and MC4R genes. Surgery for obesity and related diseases, 17(8), pp. 1449-1456. Elsevier 10.1016/j.soard.2021.04.020
Pignatti, Emanuele; Flück, Christa E. (2021). Adrenal cortex development and related disorders leading to adrenal insufficiency. Molecular and cellular endocrinology, 527, p. 111206. Elsevier Ireland 10.1016/j.mce.2021.111206
Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948
Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704
Ali, Salma R; Bryce, Jillian; Haghpanahan, Houra; Lewsey, James D; Tan, Li En; Atapattu, Navoda; Birkebaek, Niels H; Blankenstein, Oliver; Neumann, Uta; Balsamo, Antonio; Ortolano, Rita; Bonfig, Walter; Claahsen-van der Grinten, Hedi L; Cools, Martine; Costa, Eduardo Correa; Darendeliler, Feyza; Poyrazoglu, Sukran; Elsedfy, Heba; Finken, Martijn J J; Fluck, Christa E; ... (2021). Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 106(1), e192-e203. Oxford University Press 10.1210/clinem/dgaa694
Hebenstreit, Doris; Ahmed, S Faisal; Krone, Nils; Krall, Christoph; Bryce, Jillian; Alvi, Sabah; Ortolano, Rita; Lima, Mario; Birkebaek, Niels; Bonfig, Walter; Claahsen van der Grinten, Hedi; Costa, Eduardo Correa; Poyrazoglu, Sukran; de Vries, Liat; Flück, Christa E.; Guran, Tulay; Bugrul, Fuat; Güven, Ayla; Iotova, Violeta; Koehler, Birgit; ... (2021). Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study. Sexual development, 15(4), pp. 229-235. Karger 10.1159/000517055
Janner, Marco; Sommer, Grit; Groessl, Michael; Flück, Christa E. (2020). Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities. Journal of clinical endocrinology and metabolism, 105(12), e4439-e4451. Endocrine Society 10.1210/clinem/dgaa598
Audí, Laura; Bertelloni, Silvano; Flück, Christa E. (2020). Molecular Aspects of Sex Development in Mammals: New Insight for Practice. International journal of molecular sciences, 21(23) MDPI 10.3390/ijms21239146
Martínez de LaPiscina, Idoia; Mahmoud, Rana Aa; Sauter, Kay-Sara; Esteva, Isabel; Alonso, Milagros; Costa, Ines; Rial-Rodriguez, Jose Manuel; Rodríguez-Estévez, Amaia; Vela, Amaia; Castano, Luis; Flück, Christa E. (2020). Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1. International journal of molecular sciences, 21(22) MDPI 10.3390/ijms21228554
Kariyawasam, Dulanjalee; Peries, Marianne; Foissac, Frantz; Eymard-Duvernay, Sabrina; Tylleskär, Thorkild; Singata-Madliki, Mandisa; Kankasa, Chipepo; Meda, Nicolas; Tumwine, James; Mwiya, Mwiya; Engebretsen, Ingunn; Flück, Christa E.; Hartmann, Michaela F; Wudy, Stefan A; Hirt, Deborah; Treluyer, Jean Marc; Molès, Jean-Pierre; Blanche, Stéphane; Van De Perre, Philippe; Polak, Michel; ... (2020). Lopinavir-Ritonavir Impairs Adrenal Function in Infants. Clinical infectious diseases, 71(4), pp. 1030-1039. Oxford University Press 10.1093/cid/ciz888
Cohen, Michal; Pignatti, Emanuele; Dines, Monica; Mory, Adi; Ekhilevitch, Nina; Kolodny, Rachel; Flück, Christa E.; Tiosano, Dov (2020). In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. International journal of molecular sciences, 21(16) MDPI 10.3390/ijms21165857
Flück, Christa E.; Parween, Shaheena; Rojas Velazquez, Maria Natalia; Pandey, Amit Vikram (2020). Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 117(26), pp. 14632-14633. National Academy of Sciences NAS 10.1073/pnas.2003154117
Parween, Shaheena; Rihs, Silvia; Flück, Christa E. (2020). Metformin inhibits the activation of melanocortin receptors 2 and 3 in vitro: A possible mechanism for its anti-androgenic and weight balancing effects in vivo? The journal of steroid biochemistry and molecular biology, 200, p. 105684. Elsevier 10.1016/j.jsbmb.2020.105684
Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück Pandey, Christa Emma; Audí, Laura; Pandey, Amit Vikram (2020). Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. The journal of clinical endocrinology and metabolism, 105(4), e1272-e1290. Oxford University Press 10.1210/clinem/dgaa076
Praveen, Valiyaparambil Pavithran; Ladjouze, Asmahane; Sauter, Kay-Sara; Pulickal, Annie; Katharopoulos, Efstathios; Trippel, Mafalda; Perren, Aurel; Pandey, Amit V; Flück, Christa E (2020). Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function. Journal of the Endocrine Society, 4(4), bvaa030. Oxford University Press 10.1210/jendso/bvaa030
Camats, Núria; Flück, Christa E; Audí, Laura (2020). Oligogenic Origin of Differences of Sex Development in Humans. International journal of molecular sciences, 21(5) MDPI 10.3390/ijms21051809
van der Straaten, Saskia; Springer, Alexander; Zecic, Aleksandra; Hebenstreit, Doris; Tonnhofer, Ursula; Gawlik, Aneta; Baumert, Malgorzata; Szeliga, Kamila; Debulpaep, Sara; Desloovere, An; Tack, Lloyd; Smets, Koen; Wasniewska, Malgorzata; Corica, Domenico; Calafiore, Mariarosa; Ljubicic, Marie Lindhardt; Busch, Alexander Siegfried; Juul, Anders; Nordenström, Anna; Sigurdsson, Jon; ... (2020). The External Genitalia Score (EGS): A European multicenter validation study. The journal of clinical endocrinology and metabolism, 105(3) Oxford University Press 10.1210/clinem/dgz142
Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185
Ljubicic, Marie Lindhardt; Jørgensen, Anne; Ribeiro de Andrade, Juliana Gabriel; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Cuccaro, Rieko Tadokoro; Darendeliler, Feyza; Flück, Christa E; Grinspon, Romina P; Maciel-Guerra, Andrea; Guran, Tulay; Hannema, Sabine E; Lucas-Herald, Angela K; Hiort, Olaf; Holterhus, Paul Martin; Lichiardopol, Corina; Looijenga, Leendert H J; Ortolano, Rita; Riedl, Stefan; ... (2019). Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis". The journal of clinical endocrinology and metabolism, 104(12), pp. 5812-5813. Oxford University Press 10.1210/jc.2019-01413
Schneider, Christine; Zingg, Tanja; Slavova, Nedelina; Diepold, Miriam; Xydias, Theodoros; Flück, Christa E.; Rössler, Jochen Karl (2019). Schwere Komplikationen einer beta-Thalassaemia major. Swiss Medical Forum, 19(49-50), pp. 818-821. EMH Swiss Medical Publishers 10.4414/smf.2019.08327
Flück, Christa; Nordenström, Anna; Ahmed, S Faisal; Ali, Salma R; Berra, Marta; Hall, Joanne; Köhler, Birgit; Pasterski, Vickie; Robeva, Ralitsa; Schweizer, Katinka; Springer, Alexander; Westerveld, Puck; Hiort, Olaf; Cools, Martine (2019). Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. European journal of endocrinology, 181(5), pp. 545-564. European Society of Endocrinology 10.1530/EJE-19-0363
Ljubicic, Marie Lindhardt; Jørgensen, Anne; Acerini, Carlo; Andrade, Juliana; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Cuccaro, Rieko Tadokoro; Darendeliler, Feyza; Flück, Christa E; Grinspon, Romina P; Maciel-Guerra, Andrea; Guran, Tulay; Hannema, Sabine E; Lucas-Herald, Angela K; Hiort, Olaf; Holterhus, Paul Martin; Lichiardopol, Corina; Looijenga, Leendert H J; Ortolano, Rita; ... (2019). Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis. The journal of clinical endocrinology and metabolism, 104(10), pp. 4366-4381. Oxford University Press 10.1210/jc.2018-02752
Katharopoulos, Efstathios; Sauter, Kay; Pandey, Amit Vikram; Flück Pandey, Christa Emma (2019). In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity. The journal of steroid biochemistry and molecular biology, 190, pp. 263-272. Elsevier 10.1016/j.jsbmb.2019.01.017
Swerdlow, Anthony J; Cooke, Rosie; Beckers, Dominique; Butler, Gary; Carel, Jean-Claude; Cianfarani, Stefano; Clayton, Peter; Coste, Joël; Deodati, Annalisa; Ecosse, Emmanuel; Hokken-Koelega, Anita C S; Khan, Aysha J; Kiess, Wieland; Kuehni, Claudia E; Flück Pandey, Christa Emma; Pfaffle, Roland; Sävendahl, Lars; Sommer, Grit; Thomas, Muriel; Tidblad, Anders; ... (2019). Risk of meningioma in European patients treated with growth hormone in childhood: results from the SAGhE cohort. Journal of clinical endocrinology and metabolism, 104(3), pp. 658-664. Endocrine Society 10.1210/jc.2018-01133
Bileck, Andrea; Flück Pandey, Christa Emma; Dhayat, Nasser; Grössl, Michael (2019). How high-resolution techniques enable reliable steroid identification and quantification. Journal of steroid biochemistry and molecular biology, 186, pp. 74-78. Elsevier 10.1016/j.jsbmb.2018.09.018
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
Sommer, Grit; Konrad, Daniel; Kuhlmann, Beatrice; L'Allemand, Dagmar; Phan-Hug, Franziska; Hauschild, Michael; Schwitzgebel, Valerie; Tonella, Paolo; Hess, Melanie; Zumsteg, Urs; Lauber-Biason, Anna; Flück, Christa E (2018). [Enfants et adolescents avec variations du développement sexuel]. Swiss Medical Forum, 18(42), pp. 858-864. EMH Swiss Medical Publishers 10.4414/smf.2018.03378
Dhayat, Nasser; Marti, Nesa Magdalena; Kollmann, Zahraa; Bally, Lia; Escher, Geneviève; Grössl, Michael; Ackermann, Daniel; Mueller, Michael; Vogt, Bruno; Birkhäuser, Martin; Flück Pandey, Christa Emma (2018). Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites. PLoS ONE, 13(10), e0203903. Public Library of Science 10.1371/journal.pone.0203903
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
Dhayat, Nasser; Frey, Brigitte; Frey, Brigitte; d'Uscio, Claudia Henriette; Vogt, Bruno; Dick, Bernhard; Flück Pandey, Christa Emma (2018). Corrigendum to “Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis”. Journal of steroid biochemistry and molecular biology, 183, p. 238. Elsevier 10.1016/j.jsbmb.2018.08.005
Xu, Cheng; Cassatella, Daniele; van der Sloot, Almer M; Quinton, Richard; Hauschild, Michael; De Geyter, Christian; Flück Pandey, Christa Emma; Feller, Katrin Madeleine; Bartholdi, Deborah; Nemeth, Attila; Halperin, Irene; Pekic Djurdjevic, Sandra; Maeder, Philippe; Papadakis, Georgios; Dwyer, Andrew A; Marino, Laura; Favre, Lucie; Pignatelli, Duarte; Niederländer, Nicolas J; Acierno, James; ... (2018). Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine, 20(8), pp. 872-881. Palgrave Macmillan 10.1038/gim.2017.197
Cantuaria, Manuella Lech; Usemann, Jakob; Proietti, Elena; Blanes-Vidal, Victoria; Dick, Bernhard; Flück Pandey, Christa Emma; Rüedi, Simone; Héritier, Harris; Wunderli, Jean-Marc; Latzin, Philipp; Frey, Urs; Röösli, Martin; Vienneau, Danielle (2018). Glucocorticoid metabolites in newborns: A marker for traffic noise related stress? Environment International, 117, pp. 319-326. Elsevier 10.1016/j.envint.2018.05.002
Cools, Martine; Nordenström, Anna; Robeva, Ralitsa; Hall, Joanne; Westerveld, Puck; Flück Pandey, Christa Emma; Köhler, Birgit; Berra, Marta; Springer, Alexander; Schweizer, Katinka; Pasterski, Vickie (2018). Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nature reviews. Endocrinology, 14(7), pp. 415-429. Springer Nature 10.1038/s41574-018-0010-8
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
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; ... (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568
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
Tack, Lloyd J W; Maris, Ellen; Looijenga, Leendert H J; Hannema, Sabine E; Audi, Laura; Köhler, Birgit; Holterhus, Paul-Martin; Riedl, Stefan; Wisniewski, Amy; Flück Pandey, Christa Emma; Davies, Justin H; T Apos Sjoen, Guy; Lucas-Herald, Angela K; Evliyaoglu, Olcay; Krone, Nils; Iotova, Violeta; Marginean, Otilia; Balsamo, Antonio; Verkauskas, Gilvydas; Weintrob, Naomi; ... (2018). Management of Gonads in Adults with Androgen Insensitivity: An International Survey. Hormone research in paediatrics, 90(4), pp. 236-246. Karger 10.1159/000493645
Burget, Lukas; Parera, Laura Audí; Fernandez-Cancio, Monica; Gräni, Rolf; Henzen, Christoph; Flück Pandey, Christa Emma (2018). A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the gene. Endocrinology, diabetes & metabolism case reports, 2018(1) Bioscientifica 10.1530/EDM-18-0003
Marti, Nesa Magdalena; Malikova, Jana; Galván Hernández, José Alberto; Aebischer, Maude; Janner, Marco; Sumnik, Zdenek; Obermannova, Barbora; Escher, Geneviève; Perren, Aurel; Flück Pandey, Christa Emma (2017). Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway. Molecular and cellular endocrinology, 452, pp. 64-73. Elsevier Ireland 10.1016/j.mce.2017.05.014
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; Legeza, Balazs; Marti, Nesa Magdalena; Hertig, Damian; Diserens, Gaëlle; Nuoffer, Jean-Marc; Vermathen, Peter; Flück, Christa E (2017). Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems. Scientific Reports, 7(1), p. 8652. Nature Publishing Group 10.1038/s41598-017-09189-y
Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). Testicular Steroidogenesis. In: Simoni, Manuela; Huhtaniemi, Ilpo T (eds.) Endocrinology of the Testis and Male Reproduction. Endocrinology (pp. 1-29). Cham: Springer International Publishing 10.1007/978-3-319-29456-8_10-1
Feller, Katrin Madeleine; Flück Pandey, Christa Emma; Audi, Laura; Fernandez-Cancio, Monica; Stettler, Christoph (20 May 2017). A rare cause of a 46, XY disorder of sex development diagnosed in an adult patient. Endocrine abstracts, 49. 10.1530/endoabs.49.EP1090
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
Diserens, G; Hertig, Damian; Vermathen, Martina; Legeza, Balázs; Flück Pandey, Christa Emma; Nuoffer, Jean-Marc; Vermathen, Peter (2017). Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells. Analyst, 142(3), pp. 465-471. Royal Society of Chemistry 10.1039/c6an02195f
Miletta, Maria Consolata; Flück, Christa Emma; Mullis, Primus-Eugen (2017). Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II. Biochemical pharmacology, 124, pp. 1-9. Elsevier 10.1016/j.bcp.2016.07.016
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
Marti, Nesa Magdalena; Bouchoucha, Nadia; Sauter, Kay-Sara; Flück, Christa E (2017). Resveratrol inhibits androgen production of human adrenocortical H295R cells by lowering CYP17 and CYP21 expression and activities. PLoS ONE, 12(3), e0174224. Public Library of Science 10.1371/journal.pone.0174224
Dhayat, Nasser; Dick, Bernhard; Frey, Brigitte; d'Uscio, Claudia Henriette; Vogt, Bruno; Flück, Christa Emma (2017). Androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway: insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome. Journal of steroid biochemistry and molecular biology, 165(Pt B), pp. 312-322. Elsevier 10.1016/j.jsbmb.2016.07.009
Miletta, Maria Consolata; Petkovic, Vibor; Eblé, Andrée; Flück, Christa Emma; Mullis, Primus-Eugen (2016). Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. Endocrinology, 157(10), pp. 3972-3982. Oxford University Press 10.1210/en.2015-2038
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; Flück, Christa Emma (2016). Regulation of human (adrenal) androgen biosynthesis-New insights from novel throughput technology studies. Biochemical pharmacology, 102, pp. 20-33. Elsevier 10.1016/j.bcp.2015.10.010
Stranzinger, Enno; Scherer, Cordula; Pabst, Werner Lukas; Schuster, Frederick; Flück, Christa Emma (2016). Unilateral Stimulation of the Right Ovary in a 10-Year-Old Girl with Perforated Appendicitis. Ultrasound international open, 02(03), E102-E104. Thieme 10.1055/s-0042-110658
Probst-Scheidegger, Ursina; Udhane, Sameer S; l'Allemand, Dagmar; Flück, Christa Emma; Camats Tarruella, Núria (2016). Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation. Sexual development, 10(4), pp. 200-204. Karger 10.1159/000448724
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
Burckhardt, Marie-Anne; Udhane, Sameer Sopanrao; Marti, Nesa Magdalena; Schnyder, Isabelle; Tapia, Coya; Nielsen, John E; Mullis, Primus-Eugen; Rajpert-De Meyts, Ewa; Flück, Christa Emma (2015). Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature. European journal of endocrinology, 173(5), K1-K12. BioScientifica Ltd. 10.1530/EJE-15-0599
Camats Tarruella, Núria; Üstyol, Ala; Atabek, Mehmet Emre; Dick, Bernhard; Flück, Christa Emma (2015). A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene. Clinical case reports, 3(10), pp. 793-797. Wiley 10.1002/ccr3.343
Dhayat, Nasser A; Frey, Andrea E; Frey, Brigitte M; d'Uscio, Claudia Henriette; Vogt, Bruno; Rousson, Valentin; Dick, Bernhard; Flück, Christa E (2015). Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: tracing the complexity of human postnatal steroidogenesis. Journal of steroid biochemistry and molecular biology, 154, pp. 226-236. Elsevier 10.1016/j.jsbmb.2015.07.024
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
Kempna, Petra; Marti, Nesa Magdalena; Udhane, Sameer Sopanrao; Flück, Christa (2015). Regulation of androgen biosynthesis - A short review and preliminary results from the hyperandrogenic starvation NCI-H295R cell model. Molecular and cellular endocrinology, 408, pp. 124-132. Elsevier Ireland 10.1016/j.mce.2014.12.015
Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Mullis, Primus-Eugen; Moreno, Francisca; González Casado, Isabel; López-Siguero, Juan Pedro; Corripio, Raquel; Bermúdez de la Vega, José Antonio; Blanco, José Antonio; Flück, Christa Emma (2015). Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. PLoS ONE, 10(11), e0142831. Public Library of Science 10.1371/journal.pone.0142831
Camats Tarruella, Núria; Audí, Laura; Fernández-Cancio, Mónica; Andaluz, Pilar; Mullis, Primus-Eugen; Carrascosa, Antonio; Flück, Christa Emma (2015). LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study. Sexual development, 9(3), pp. 144-154. Karger 10.1159/000381575
Flück, Christa; Pandey, Amit Vikram (2014). P450 oxidoreductase deficiency (PORD). In: New, Maria I.; Lekarev, Oksana; Parsa, Alan; Yuen, Tony; O'Malley, Bert; Hammer, Gary (eds.) Genetic steroid disorders (pp. 125-143). Elsevier 10.1016/B978-0-12-416006-4.00010-7
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
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
Miletta, Maria Consolata; Petkovic, Vibor; Eblé, Andrée; Ammann, Roland; Flück, Christa; Mullis, Primus-Eugen (2014). Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43. PLoS ONE, 9(10), e107388. Public Library of Science 10.1371/journal.pone.0107388
Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Flück, Christa; Mullis, Primus-Eugen (2014). Alteration of ZnT5-mediated zinc import into the early secretory pathway affects the secretion of growth hormone from rat pituitary cells. Hormone research in paediatrics, 82(4), pp. 245-251. Karger 10.1159/000365924
Malikova, Jana; Camats Tarruella, Núria; Fernández-Cancio, Mónica; Heath, Karen; González, Isabel; Caimarí, María; del Campo, Miguel; Albisu, Marian; Kolouskova, Stanislava; Audí, Laura; Flück, Christa (2014). Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. PLoS ONE, 9(8), e104838. Public Library of Science 10.1371/journal.pone.0104838
Malikova, Jana; Flück, Christa (2014). Novel insight into etiology, diagnosis and management of primary adrenal insufficiency. Hormone research in paediatrics, 82(3), pp. 145-157. Karger 10.1159/000363107
Biason-Lauber, Anna; Pandey, Amit Vikram; Miller, Walter L.; Flück, Christa (2013). Marsupial pathway in humans. In: New, Maria I.; Lekarev, Oksana; Parsa, Alan; Yuen, Tony; O'Malley, Bert; Hammer, Gary (eds.) Genetic steroid disorders (pp. 215-224). New York: Elsevier 10.1016/B978-0-12-416006-4.00015-6
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
Visser, Jenny A.; Hokken-Koelega, Anita C. S.; Zandwijken, Gladys R. J.; Limacher, Andreas; Ranke, Michael B.; Flück, Christa E. (2013). Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Human reproduction, 28(7), pp. 1899-1907. Oxford: Oxford University Press 10.1093/humrep/det089
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
Biason-Lauber, Anna; Miller, Walter L; Pandey, Amit V; Flück, Christa E (2013). Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation. Molecular and cellular endocrinology, 371(1-2), pp. 124-32. Shannon: Elsevier Ireland 10.1016/j.mce.2013.01.017
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
Miletta, Maria Consolata; Bieri, Andreas; Kernland Lang, Kristin Helene; Schöni, Martin Heinrich; Petkovic, Vibor; Flück, Christa; Eblé, Andrée; Mullis, Primus-Eugen (2013). Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn (2+) for Normal Growth and Development. International journal of endocrinology, 2013, p. 259189. Hindawi 10.1155/2013/259189
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
Grunt, Sebastian; Steinlin, Maja; Weisstanner, Christian; Schöning, Martin; Mullis, Primus E; Flück, Christa E (2013). Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight. Hormone research in paediatrics, 80(1), pp. 57-63. Basel: Karger 10.1159/000348515
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
Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Nuoffer, Jean-Marc; Flück, Christa E (2012). Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells. PLoS ONE, 7(1), e30956. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0030956
Couture, C; Saveanu, A; Barlier, A; Carel, J C; Fassnacht, M; Flück, C E; Houang, M; Maes, M; Phan-Hug, F; Enjalbert, A; Drouin, J; Brue, T; Vallette, S (2012). Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. Journal of clinical endocrinology and metabolism, 97(3), E486-95. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-1659
Miletta, Maria Consolata; Scheidegger, Ursina A; Giordano, Mara; Bozzola, Mauro; Pagani, Sara; Bona, Gianni; Dattani, Mehul; Hindmarsh, Peter C; Petkovic, Vibor; Oser-Meier, Monika; Flück, Christa E; Mullis, Primus-E (2012). Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. Clinical endocrinology, 76(5), pp. 683-90. Oxford: Blackwell Scientific Publications 10.1111/j.1365-2265.2011.04267.x
Sidler, Daniel; Renzulli, Pietro; Schnoz, Christina; Berger, Barbara; Schneider-Jakob, Sabine; Flück, Christa; Inderbitzin, Daniel; Corazza, Nadia; Candinas, Daniel; Brunner, Thomas (2012). Colon cancer cells produce immunoregulatory glucocorticoids. Oncoimmunology, 1(4), pp. 529-530. Austin, Tex.: Landes Bioscience
Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Nuoffer, Jean-Marc; Mullis, Primus E; Flück, Christa E (2012). Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain. Endocrinology, 153(9), pp. 4354-66. Chevy Chase, Md.: Endocrine Society 10.1210/en.2012-1145
Janner, Marco; Flück, Christa E.; Mullis, Primus E. (2012). Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency. Hormone research in paediatrics, 78(4), pp. 261-268. Basel: Karger 10.1159/000341585
Letouzé, Eric; Rosati, Roberto; Komechen, Heloisa; Doghman, Mabrouka; Marisa, Laetitia; Flück, Christa; de Krijger, Ronald R; van Noesel, Max M; Mas, Jean-Christophe; Pianovski, Mara A D; Zambetti, Gerard P; Figueiredo, Bonald C; Lalli, Enzo (2012). SNP array profiling of childhood adrenocortical tumors reveals distinct pathways of tumorigenesis and highlights candidate driver genes. Journal of clinical endocrinology and metabolism, 97(7), E1284-93. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2012-1184
Sidler, D; Renzulli, P; Schnoz, C; Berger, B; Schneider-Jakob, S; Flück, C; Inderbitzin, D; Corazza, N; Candinas, D; Brunner, T (2011). Colon cancer cells produce immunoregulatory glucocorticoids. Oncogene, 30(21), pp. 2411-9. Basingstoke, UK: Nature Publishing Group 10.1038/onc.2010.629
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
Hagemann, Kerstin; Zanolari Calderari, Maura; Perren, Aurel; Cree, Ian; Mullis, Primus E; Flück, Christa E (2011). Atypical presentation of a hormonally active adrenocortical tumor in an adolescent leading to delayed diagnosis. Hormones - international journal of endocrinology and metabolism, 10(4), pp. 317-25. Athens: Hellenic Endocrine Soc.
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
Flück, Christa E; Meyer-Böni, Monika; Pandey, Amit V; Kempná, Petra; Miller, Walter L; Schoenle, Eugen J; Biason-Lauber, Anna (2011). Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. American journal of human genetics, 89(2), pp. 201-18. New York, N.Y.: Cell Press 10.1016/j.ajhg.2011.06.009
Flück, ; Christa, E (2011). Congenital adrenal hyperplasia owing to 17α-hydroxylase/17,20 lyase and p450 oxidoreductase deficiencies. Advances in experimental medicine and biology, 707, pp. 3-5. Wien: Springer 10.1007/978-1-4419-8002-1_1
Flück, Christa E; Pandey, Amit V; Dick, Bernhard; Camats, Núria; Fernández-Cancio, Mónica; Clemente, María; Gussinyé, Miquel; Carrascosa, Antonio; Mullis, Primus E; Audi, Laura (2011). Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. PLoS ONE, 6(5), e20178. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0020178
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
Flück, CE; Cripe Mamie, C (2011). Research in medicine: Why do we need it and how do (should) we do it? In: Practical paediatric endocrinology in a limited resource setting. Ed. Margaret Zacharin
Flück, CE (2011). Assessing the function of the human adrenal cortex. In: Diagnostics of endocrine function in children and adolescents (pp. 350-378). Karger
Kempná, Petra; Körner, Meike; Waser, Beatrice; Hofer, Gaby; Nuoffer, Jean-Marc; Reubi, J.C.; Flück, Christa E. (2010). Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors. Molecular and cellular endocrinology, 314(1), pp. 101-109. Shannon: Elsevier Ireland 10.1016/j.mce.2009.08.010
Tonella, P; Flück, C E; Mullis, P E (2010). Metabolic control of type 1 diabetic patients followed at the University Children's Hospital in Berne: Have we reached the goal? Swiss medical weekly, 140, w13057. Muttenz: EMH Schweizerischer Ärzteverlag 10.4414/smw.2010.13057
Tonella, P; Flück, C E; Mullis, P E (2010). Insulin-like growth factor-I treatment in primary growth hormone insensitivity: effect of recombinant human IGF-I (rhIGF-I) and rhIGF-I/rhIGF-binding protein-3 complex. Hormone research in paediatrics, 73(2), pp. 140-7. Basel: Karger 10.1159/000277660
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
Gozzi, T; Flück, Ce; L'allemand, D; Dattani, M T; Hindmarsh, P C; Mullis, P E (2010). Do centimetres matter? Self-reported versus estimated height measurements in parents. Acta paediatrica, 99(4), pp. 569-74. Oslo: Wiley 10.1111/j.1651-2227.2009.01654.x
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
Petkovic, Vibor; Godi, Michela; Lochmatter, Didier; Eblé, Andrée; Flück, Christa E; Robinson, Iain C; Mullis, Primus E (2010). Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations. Endocrinology, 151(6), pp. 2650-8. Chevy Chase, Md.: Endocrine Society 10.1210/en.2009-1280
Janner, Marco; Ballinari, Pietro; Mullis, Primus E.; Flueck, Christa E. (2010). High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes. Swiss medical weekly, 140, w13091. Muttenz: EMH Schweizerischer Ärzteverlag 10.4414/smw.2010.13091
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
Huber, Benedikt M; Bolt, Isabel B; Sauvain, Marie-Josèphe; Flück, Christa E (2010). Adrenal insufficiency after glucocorticoid withdrawal in children with rheumatic diseases. Acta paediatrica, 99(12), pp. 1889-93. Oslo: Wiley 10.1111/j.1651-2227.2010.01936.x
Lochmatter, Didier; Strom, Molly; Eblé, André; Petkovic, Vibor; Flück, Christa E; Bidlingmaier, Martin; Robinson, Iain C; Mullis, Primus E (2010). Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells. Endocrinology, 151(9), pp. 4400-9. Chevy Chase, Md.: Endocrine Society 10.1210/en.2010-0196
Kempná, Petra; Hirsch, Andrea; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2010). Impact of differential P450c17 phosphorylation by cAMP stimulation and by starvation conditions on enzyme activities and androgen production in NCI-H295R cells. Endocrinology, 151(8), pp. 3686-96. Chevy Chase, Md.: Endocrine Society 10.1210/en.2010-0093
Rieckmann, Thorsten; Zhuang, Lei; Flück, Christa E; Trueb, Beat (2009). Characterization of the first FGFRL1 mutation identified in a craniosynostosis patient. Biochimica et biophysica acta - molecular basis of disease, 1792(2), pp. 112-21. New York, N.Y.: Elsevier 10.1016/j.bbadis.2008.11.006
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
Scheidegger, U A; Flück, C E; Scheidegger, K; Diem, P; Mullis, P E (2009). [Role of complementary medicine in type 1 diabetes mellitus in two Swiss centres]. Praxis - schweizerische Rundschau für Medizin, 98(18), pp. 1001-5. Bern: Huber
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
Missaghian, Elika; Kempná, Petra; Dick, Bernhard; Hirsch, Andrea; Alikhani-Koupaei, Rasoul; Jégou, Bernard; Mullis, Primus E; Frey, Brigitte M; Flück, Christa E (2009). Role of DNA methylation in the tissue-specific expression of the CYP17A1 gene for steroidogenesis in rodents. Journal of endocrinology, 202(1), pp. 99-109. Bristol: BioScientifica 10.1677/JOE-08-0353
Räz, Barbara; Janner, Marco; Petkovic, Vibor; Lochmatter, Didier; Eblé, Andrée; Dattani, Mehul T.; Hindmarsh, Peter C.; Flück, Christa E.; Mullis, Primus E. (2008). Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency. Journal of clinical endocrinology and metabolism, 93(3), pp. 974-980. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2007-1382
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
Kempná, Petra; Flück, Christa E (2008). Adrenal gland development and defects. Best practice & research - clinical endocrinology & metabolism, 22(1), pp. 77-93. London: Baillière Tindall 10.1016/j.beem.2007.07.008
Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2007). Pioglitazone inhibits androgen production in NCI-H295R cells by regulating gene expression of CYP17 and HSD3B2. Molecular pharmacology, 71(3), pp. 787-98. Bethesda, Md.: American Society for Pharmacology and Experimental Therapeutics 10.1124/mol.106.028902
Petkovic, Vibor; Salemi, Souzan; Vassella, Erik; Karamitopoulou-Diamantis, Evanthia; Meinhardt, Udo J; Flück, Christa E; Mullis, Primus E (2007). Leydig-cell tumour in children: variable clinical presentation, diagnostic features, follow-up and genetic analysis of four cases. Hormone research, 67(2), pp. 89-95. Basel: Karger 10.1159/000096356
Petkovic, Vibor; Thevis, Mario; Lochmatter, Didier; Besson, Amélie; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2007). GH mutant (R77C) in a pedigree presenting with the delay of growth and pubertal development: structural analysis of the mutant and evaluation of the biological activity. European journal of endocrinology, 157 Suppl 1, S67-74. Bristol: BioScientifica Ltd.
Petkovic, Vibor; Lochmatter, Didier; Turton, James; Clayton, Peter E; Trainer, Peter J; Dattani, Mehul T; Eblé, Andrée; Robinson, Iain C; Flück, Christa E; Mullis, Primus E (2007). Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. Journal of clinical endocrinology and metabolism, 92(11), pp. 4427-35. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2007-0857
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
Petkovic, Vibor; Besson, Amélie; Thevis, Mario; Lochmatter, Didier; Eblé, Andrée; Flück, Christa E; Mullis, Primus E (2007). Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. Journal of clinical endocrinology and metabolism, 92(8), pp. 2893-901. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2006-2238
Scheidegger, U A; Flück, C E; Nuoffer, J M (2007). [Hypoglycemia in infancy -- not always of no importance!]. Praxis - schweizerische Rundschau für Medizin, 96(13), pp. 503-6. Bern: Huber
Samandari, Elika; Kempná, Petra; Nuoffer, Jean-Marc; Hofer, Gaby; Mullis, Primus E; Flück, Christa E (2007). Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3beta-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities. Journal of endocrinology, 195(3), pp. 459-72. Bristol: BioScientifica 10.1677/JOE-07-0166
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
Janner, M.; Mullis, P. E.; Flück, C. E. (2006). Is the metabolic syndrome a new childhood disease? Praxis - schweizerische Rundschau für Medizin, 95(13), pp. 493-500. Bern: Huber
Gozzi, T; Flück, Ch E; Mullis, P-E (2006). [Follow-up in a boy with Leydig cell tumor after selective surgery]. Praxis - schweizerische Rundschau für Medizin, 95(8), pp. 277-82. Bern: Huber
Flück, Christa E; Miller, Walter L (2006). P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia. Current opinion in pediatrics, 18(4), pp. 435-41. Philadelphia, Pa.: Lippincott Williams & Wilkins
Miller, Walter L.; Huang, Ningwu; Pandey, Amit Vikram; Flück, Christa E.; Agrawal, Vishal (2005). P450 oxidoreductase deficiency: a new disorder of steroidogenesis. Annals of the New York Academy of Sciences, 1061(1), pp. 100-108. Blackwell 10.1196/annals.1336.012
Flück, Christa E.; Maret, Alexander; Mallet, Delphine; Portrat-Doyen, Stéphanie; Achermann, John C.; Leheup, Bruno; Theintz, Gérald E.; Mullis, Primus-Eugen; Morel, Yves (2005). A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. Journal of clinical endocrinology and metabolism, 90(9), pp. 5304-5308. Endocrine Society 10.1210/jc.2005-0874
Flück, Christa; Mullis, Primus-Eugen (2005). The diabetic child in the emergency room. Therapeutische Umschau, 62(8), pp. 571-576. Huber
Schnyder, Sabine; Mullis, Primus E.; Ellard, Sian; Hattersley, Andrew T.; Flück, Christa E. (2005). Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss medical weekly, 135(23-24), pp. 352-356. EMH Schweizerischer Ärzteverlag
Huang, Ningwu; Pandey, Amit Vikram; Agrawal, Vishal; Reardon, William; Lapunzina, Pablo D.; Mowat, David; Jabs, Ethylin Wang; Van Vliet, Guy; Sack, Joseph; Flück Pandey, Christa Emma; Miller, Walter L. (2005). Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. American journal of human genetics, 76(5), pp. 729-749. Cell Press 10.1086/429417
Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838
Flück, Christa E.; Yaworsky, Dustin C.; Miller, Walter L. (2005). Effects of anticonvulsants on human p450c17 (17alpha-hydroxylase/17,20 lyase) and 3beta-hydroxysteroid dehydrogenase type 2. Epilepsia, 46(3), pp. 444-448. Wiley-Blackwell 10.1111/j.0013-9580.2005.38404.x
Pandey, Amit Vikram; Flück Pandey, Christa Emma; Huang, Ningwu; Tajima, Toshihiro; Fujieda, Kenji; Miller, Walter L. (2004). P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes. Endocrine research, 30(4), pp. 881-888. Informa Healthcare 10.1081/ERC-200044134
Flück, Christa; Yaworski, D.; Miller, W. L. (2004). Effect of anticonvulsants on activities of P450c17 and 3betaHSDII. Endocrine research, 30(4), pp. 955-956. Informa Healthcare
Miller, Walter L.; Huang, Ningwu; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2004). P450 oxidoreductase deficiency. Lancet, 364(9446), p. 1663. Elsevier 10.1016/S0140-6736(04)17344-3
Flück, Christa; Miller, Walter L. (2004). GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1. Molecular endocrinology, 18(5), pp. 1144-1157. Endocrine Society 10.1210/me.2003-0342
Flück Pandey, Christa Emma; Tajima, Toshihro; Pandey, Amit Vikram; Arlt, Wiebke; Okuhara, Kouji; Verge, Charles F.; Jabs, Ethylin Wang; Mendonça, Berenice B.; Fujieda, Kenji; Miller, Walter L. (2004). Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature genetics, 36(3), pp. 228-230. Nature America 10.1038/ng1300
Flück, Christa; Miller, Walter L.; Auchus, Richard J. (2003). The 17, 20-lyase activity of cytochrome p450c17 from human fetal testis favors the delta5 steroidogenic pathway. Journal of clinical endocrinology and metabolism, 88(8), pp. 3762-3766. Endocrine Society 10.1210/jc.2003-030143
Flück, Christa; Martens, John W. M.; Conte, Felix A.; Miller, Walter L. (2002). Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. Journal of clinical endocrinology and metabolism, 87(9), pp. 4318-4323. Endocrine Society 10.1210/jc.2002-020501
Flück, Christa; Deladoëy, Johnny; Nayak, S.; Zeller, O.; Kopp, P.; Mullis, Primus-Eugen (2001). Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). European journal of endocrinology, 145(4), pp. 439-444. BioScientifica Ltd.
Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica
Flück, Christa; Kuhlmann, B. V.; Mullis, Primus-Eugen (1999). Metabolic control in children and adolescents with diabetes mellitus type I in Berne: a cross-sectional study. Schweizerische medizinische Wochenschrift, 129(44), pp. 1650-1655. B. Schwabe & Co.
Deladoëy, Johnny; Flück, Christa; Bex, M.; Yoshimura, N.; Harada, N.; Mullis, Primus-Eugen (1999). Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. The Journal of clinical endocrinology and metabolism, 84(11), pp. 4050-4054. The Endocrine Society 10.1210/jcem.84.11.6135
Flück, Christa; Kuhlmann, B V; Mullis, Primus-Eugen (1999). Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed type I diabetes mellitus with and without ketoacidosis. Diabetologia, 42(9), pp. 1067-1070. Springer 10.1007/s001250051272
Deladoëy, Johnny; Flück, Christa; Büyükgebiz, A.; Kuhlmann, B. V.; Eblé, Andrée; Hindmarsh, P. C.; Wu, W.; Mullis, Primus-Eugen (1999). "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism, 84(5), pp. 1645-1650. The Endocrine Society 10.1210/jcem.84.5.5681
Flück, Christa; Deladoey, J.; Rutishauser, K.; Eblé, A.; Marti, U.; Wu, W.; Mullis, P. E. (1998). Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). Journal of clinical endocrinology and metabolism, 83(10), pp. 3727-3734. Endocrine Society 10.1210/jcem.83.10.5172
