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Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.
Martínez de LaPiscina I, Mahmoud RA, Sauter KS, Esteva I, Alonso M, Costa I, Rial-Rodriguez JM, Rodríguez-Estévez A, Vela A, Castano L, Flück CE. Martínez de LaPiscina I, et al. Among authors: castano l. Int J Mol Sci. 2020 Nov 13;21(22):8554. doi: 10.3390/ijms21228554. Int J Mol Sci. 2020. PMID: 33202802 Free PMC article.
Panhypopituitarism: genetic versus acquired etiological factors.
Coya R, Vela A, Pérez de Nanclares G, Rica I, Castaño L, Busturia MA, Martul P; GEDPIT group. Coya R, et al. Among authors: castano l. J Pediatr Endocrinol Metab. 2007 Jan;20(1):27-36. doi: 10.1515/jpem.2007.20.1.27. J Pediatr Endocrinol Metab. 2007. PMID: 17315526
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. Among authors: castano l. 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.
Modifications of the homeostasis model assessment of insulin resistance index with age.
Soriguer F, Colomo N, Valdés S, Goday A, Rubio-Martín E, Esteva I, Castaño L, Ruiz de Adana MS, Morcillo S, Calle A, García-Fuentes E, Catalá M, Gutiérrez-Repiso C, Delgado E, Gomis R, Ortega E, Rojo-Martínez G. Soriguer F, et al. Among authors: castano l. Acta Diabetol. 2014 Dec;51(6):917-25. doi: 10.1007/s00592-013-0523-5. Epub 2014 Apr 1. Acta Diabetol. 2014. PMID: 24687694
308 results