Camats Tarruella, Núria

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2015

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

2014

Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Fernández, Juan M.; Ortega, Ana M.; Udhane, Sameer Sopanrao; Andaluz, Pilar; Audí, Laura; Flück, Christa (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

2012

Camats, N.; Pandey, A. V.; Fernández-Cancio, M.; Andaluz, P.; Janner, M.; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, P. E.; Carrascosa, A.; Audí, L.; Flück, C. E. (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

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