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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. 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 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. 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.
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. 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 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. 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
The exon 3-deleted/full-length growth hormone receptor polymorphism does not influence the effect of puberty or growth hormone therapy on glucose homeostasis in short non-growth hormone-deficient small-for-gestational-age children: results from a two-year controlled prospective study.
Audí L, Carrascosa A, Esteban C, Fernández-Cancio M, Andaluz P, Yeste D, Espadero R, Granada ML, Wollmann H, Fryklund L; Spanish SGA Study Group. Audí L, et al. J Clin Endocrinol Metab. 2008 Jul;93(7):2709-15. doi: 10.1210/jc.2008-0150. Epub 2008 Apr 29. J Clin Endocrinol Metab. 2008. PMID: 18445665 Clinical Trial.
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