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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. 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
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE. Camats N, et al. PLoS One. 2015 Nov 16;10(11):e0142831. doi: 10.1371/journal.pone.0142831. eCollection 2015. PLoS One. 2015. PMID: 26580071 Free PMC article.
Spanish growth studies 2008. New anthropometric standards.
Carrascosa A, Fernández JM, Fernández C, Ferrández A, López-Siguero JP, Sánchez E, Sobradillo B, Yeste D. Carrascosa A, et al. Endocrinol Nutr. 2008 Dec;55(10):484-506. doi: 10.1016/S1575-0922(08)75845-5. Epub 2009 Jan 7. Endocrinol Nutr. 2008. PMID: 22980464 English, Spanish.
[Idiopathic short stature. A literature review and update].
Carrascosa A, Fernández Longás A, Gracia Bouthelier R, López Siguero JP, Pombo Arias M, Yturriaga R; Grupo Español de Consenso. Carrascosa A, et al. An Pediatr (Barc). 2011 Sep;75(3):204.e1-11. doi: 10.1016/j.anpedi.2011.05.007. An Pediatr (Barc). 2011. PMID: 21723798 Free article. Review. Spanish.
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L. Rica I, et al. Diabet Med. 2007 Jul;24(7):707-13. doi: 10.1111/j.1464-5491.2007.02140.x. Epub 2007 May 8. Diabet Med. 2007. PMID: 17490422
[Spanish cross-sectional growth study 2008. Part II. Height, weight and body mass index values from birth to adulthood].
Carrascosa Lezcano A, Fernández García JM, Fernández Ramos C, Ferrández Longás A, López-Siguero JP, Sánchez González E, Sobradillo Ruiz B, Yeste Fernández D; Grupo Colaborador Español. Carrascosa Lezcano A, et al. An Pediatr (Barc). 2008 Jun;68(6):552-69. doi: 10.1157/13123287. An Pediatr (Barc). 2008. PMID: 18559194 Free article. Spanish.
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. Romanelli V, et al. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Am J Med Genet A. 2010. PMID: 20503313 Review.
Position statement: Gender dysphoria in childhood and adolescence. Working Group on Gender Identity and Sexual Development of the Spanish Society of Endocrinology and Nutrition (GIDSEEN).
Esteva de Antonio I, Asenjo Araque N, Hurtado Murillo F, Fernández Rodríguez M, Vidal Hagemeijer Á, Moreno-Pérez O, Lucio Pérez MJ, López Siguero JP; Grupo GIDSEEN. Esteva de Antonio I, et al. Endocrinol Nutr. 2015 Oct;62(8):380-3. doi: 10.1016/j.endonu.2015.03.004. Epub 2015 Apr 30. Endocrinol Nutr. 2015. PMID: 25935352 English, Spanish.
112 results