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Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, Moreno F, Bereket A, Akcay T, García-García E, Muñoz MT, Gracia R, Nistal M, Castaño L, Mullis PE, Carrascosa A, Audí L, Flück CE. Camats N, et al. J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306. doi: 10.1210/jc.2011-3169. Epub 2012 May 1. J Clin Endocrinol Metab. 2012. PMID: 22549935 Free article.
Growth hormone deficiency: an update.
Audí L, Fernández-Cancio M, Camats N, Carrascosa A. Audí L, et al. Among authors: camats n. Minerva Endocrinol. 2013 Mar;38(1):1-16. Minerva Endocrinol. 2013. PMID: 23435439 Review.
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.
Malikova J, Camats N, Fernández-Cancio M, Heath K, González I, Caimarí M, del Campo M, Albisu M, Kolouskova S, Audí L, Flück CE. Malikova J, et al. Among authors: camats n. PLoS One. 2014 Aug 14;9(8):e104838. doi: 10.1371/journal.pone.0104838. eCollection 2014. PLoS One. 2014. PMID: 25122490 Free PMC article.
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE. Camats N, et al. PLoS One. 2015 Nov 16;10(11):e0142831. doi: 10.1371/journal.pone.0142831. eCollection 2015. PLoS One. 2015. PMID: 26580071 Free PMC article.
29 results