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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: 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
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.
[Influence of the age at the start of pubertal growth on adult height].
Carrascosa A, Audí L, Bosch-Castañé J, Gussinyé M, Yeste D, Albisu MA, Clemente M, Ferrández A, Baguer L. Carrascosa A, et al. Among authors: gussinye m. Med Clin (Barc). 2008 May 10;130(17):645-9. doi: 10.1157/13120692. Med Clin (Barc). 2008. PMID: 18501126 Spanish.
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
Height gain at adult-height age in 184 short patients treated with growth hormone from prepubertal age to near adult-height age is not related to GH secretory status at GH therapy onset.
Carrascosa A, Audí L, Fernández-Cancio M, Yeste D, Gussinye M, Campos A, Albisu MA, Clemente M, Bel J, Nosás R, Rabanal M, Del Pozo C, Gómez JM, Mesa J; Group for Short Stature Study. Carrascosa A, et al. Among authors: gussinye m. Horm Res Paediatr. 2013;79:145-56. doi: 10.1159/000348540. Epub 2013 Mar 28. Horm Res Paediatr. 2013. PMID: 23548791
Growth hormone secretory status evaluated by growth hormone peak after two pharmacological growth hormone release stimuli did not significantly influence the two-year catch-up growth induced by growth hormone therapy in 318 prepubertal short children with idiopathic growth retardation.
Carrascosa A, Audí L, Fernández-Cancio M, Yeste D, Gussinye M, Albisu MA, Clemente M, Fábregas A, Bel J, Nosás R, Rabanal M, del Pozo C, Gómez JM, Mesa J; Catalan Group for Short Stature Study. Carrascosa A, et al. Among authors: gussinye m. Horm Res Paediatr. 2011 Feb;75(2):106-14. doi: 10.1159/000318782. Epub 2010 Oct 23. Horm Res Paediatr. 2011. PMID: 20975249
50 results