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Page 1
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: andaluz p. 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
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: andaluz p. 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.
Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population.
Esteban C, Audí L, Carrascosa A, Fernández-Cancio M, Pérez-Arroyo A, Ulied A, Andaluz P, Arjona R, Albisu M, Clemente M, Gussinyé M, Yeste D. Esteban C, et al. Among authors: andaluz p. Clin Endocrinol (Oxf). 2007 Feb;66(2):258-68. doi: 10.1111/j.1365-2265.2006.02718.x. Clin Endocrinol (Oxf). 2007. PMID: 17223997 Free PMC article.
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: andaluz p. 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 (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age Children.
Carrascosa A, Audí L, Esteban C, Fernández-Cancio M, Andaluz P, Gussinyé M, Clemente M, Yeste D, Albisu MA. Carrascosa A, et al. Among authors: andaluz p. J Clin Endocrinol Metab. 2008 Jan;93(1):147-53. doi: 10.1210/jc.2007-1182. Epub 2007 Oct 9. J Clin Endocrinol Metab. 2008. PMID: 17925340
The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66 microg/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational-age children: results from a two-year controlled prospective study in 170 Spanish patients.
Carrascosa A, Esteban C, Espadero R, Fernández-Cancio M, Andaluz P, Clemente M, Audí L, Wollmann H, Fryklund L, Parodi L; Spanish SGA Study Group. Carrascosa A, et al. Among authors: andaluz p. J Clin Endocrinol Metab. 2006 Sep;91(9):3281-6. doi: 10.1210/jc.2006-0685. Epub 2006 Jun 27. J Clin Endocrinol Metab. 2006. PMID: 16804042 Clinical Trial.
21 results