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Santi, Maristella; Flück Pandey, Christa E.; Hauschild, Michael; Kuhlmann, Beatrice; Kuehni, Claudia E.; Sommer, Grit (2021). Health behavior of women with Turner Syndrome. (In Press). Acta paediatrica Wiley 10.1111/apa.15814
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
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, 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
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 Claudia; 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
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
Burkhard, Fabian Z; Parween, Shaheena; Udhane, Sameer Sopanrao; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 38-50. Elsevier 10.1016/j.jsbmb.2016.04.003
Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase. Journal of steroid biochemistry and molecular biology, 165(Pt A), pp. 64-70. Elsevier 10.1016/j.jsbmb.2016.03.031
Parween, Shaheena; Boulez, Florence Roucher; Flück Pandey, Christa Emma; Lienhardt-Roussie, Anne; Mallet, Delphine; Morel, Yves; Pandey, Amit Vikram (2016). P450 Oxidoreductase Deficiency: loss of activity caused by protein instability from a novel L374H mutation. The Journal of clinical endocrinology and metabolism, 101(12), jc.2016-1928. The Endocrine Society 10.1210/jc.2016-1928
Zalewski, Adam; Ma, Nina S; Legeza, Balazs; Renthal, Nora; Flück Pandey, Christa Emma; Pandey, Amit Vikram (2016). Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. The Journal of clinical endocrinology and metabolism, 101(9), pp. 3409-3418. Endocrine Society 10.1210/jc.2016-2124
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
