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Page 1
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: gussinye m. 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.
The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age.
Carrascosa A, Audí L, Fernández-Cancio M, Esteban C, Andaluz P, Vilaró E, Clemente M, Yeste D, Albisu MA, Gussinyé M. Carrascosa A, et al. Among authors: gussinye m. J Clin Endocrinol Metab. 2008 Mar;93(3):764-70. doi: 10.1210/jc.2007-2180. Epub 2007 Dec 26. J Clin Endocrinol Metab. 2008. PMID: 18160465
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
Fernández-Cancio M, Audí L, Andaluz P, Torán N, Piró C, Albisu M, Gussinyé M, Yeste D, Clemente M, Martínez-Mora J, Blanco A, Granada ML, Marco M, Ferragut J, López-Siguero JP, Beneyto M, Carles C, Carrascosa A. Fernández-Cancio M, et al. Among authors: gussinye m. Int J Androl. 2011 Dec;34(6 Pt 2):e526-35. doi: 10.1111/j.1365-2605.2010.01136.x. Epub 2011 Jun 2. Int J Androl. 2011. PMID: 21631525
Source localization of androgen excess in adolescent girls.
Ibáñez L, Potau N, Zampolli M, Prat N, Gussinyé M, Saenger P, Vicens-Calvet E, Carrascosa A. Ibáñez L, et al. Among authors: gussinye m. J Clin Endocrinol Metab. 1994 Dec;79(6):1778-84. doi: 10.1210/jcem.79.6.7989484. J Clin Endocrinol Metab. 1994. PMID: 7989484
50 results