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Page 1
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.
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA; Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA). Audi L, et al. Among authors: castano l. J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88. doi: 10.1210/jc.2009-2146. Epub 2010 Feb 11. J Clin Endocrinol Metab. 2010. PMID: 20150575 Free article.
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.
Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P. Moya CM, et al. Among authors: castano l. J Clin Endocrinol Metab. 2006 May;91(5):1832-41. doi: 10.1210/jc.2005-1497. Epub 2006 Feb 28. J Clin Endocrinol Metab. 2006. PMID: 16507635 Free article.
Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.
Rodríguez Estévez A, Pérez-Nanclares G, Fernández-Toral J, Rivas-Crespo F, López-Siguero JP, Díez I, Grau G, Castaño L. Rodríguez Estévez A, et al. Among authors: castano l. J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1129-37. doi: 10.1515/jpem-2014-0472. J Pediatr Endocrinol Metab. 2015. PMID: 26030781
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
Garin I, Rica I, Estalella I, Oyarzabal M, Rodríguez-Rigual M, San Pedro JI, Pérez-Nanclares G, Fernández-Rebollo E, Busturia MA, Castaño L, Pérez de Nanclares G; Spanish MODY Group. Garin I, et al. Among authors: castano l. Clin Endocrinol (Oxf). 2008 Jun;68(6):873-8. doi: 10.1111/j.1365-2265.2008.03214.x. Epub 2008 Feb 1. Clin Endocrinol (Oxf). 2008. PMID: 18248649
New mutation type in pseudohypoparathyroidism type Ia.
Fernandez-Rebollo E, Barrio R, Pérez-Nanclares G, Carcavilla A, Garin I, Castaño L, de Nanclares GP. Fernandez-Rebollo E, et al. Among authors: castano l. Clin Endocrinol (Oxf). 2008 Nov;69(5):705-12. doi: 10.1111/j.1365-2265.2008.03255.x. Epub 2008 Apr 3. Clin Endocrinol (Oxf). 2008. PMID: 18394017
318 results