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Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück Pandey, Christa Emma (2018). Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics, 26(9), pp. 1329-1338. Nature Publishing Group 10.1038/s41431-018-0202-7
Fernández-Cancio, Mónica; Camats Tarruella, Núria; Flück Pandey, Christa Emma; Zalewski, Adam; Dick, Bernhard; Frey-von Matt, Brigitte; Monné, Raquel; Torán, Núria; Audí, Laura; Pandey, Amit Vikram (2018). Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency. Pharmaceuticals, 11(2), p. 37. MDPI 10.3390/ph11020037
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
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
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
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
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
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
