Flück Pandey, Christa Emma

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

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

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

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 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

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

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

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

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

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

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

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

Flück 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

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

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

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

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