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Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.
Camats N, Fernández-Cancio M, Carrascosa A, Andaluz P, Albisu MÁ, Clemente M, Gussinyé M, Yeste D, Audí L. Camats N, et al. Among authors: carrascosa a. Clin Endocrinol (Oxf). 2012 Oct;77(4):564-74. doi: 10.1111/j.1365-2265.2012.04410.x. Clin Endocrinol (Oxf). 2012. PMID: 22489751
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
Fernández-Cancio M, García-García E, González-Cejudo C, Martínez-Maestre MA, Mangas-Cruz MA, Guerra-Junior G, Pandi de Mello M, Arnhold IJP, Nishi MY, Bilharinho Mendonça B, García-Arumí E, Audí L, Tizzano E, Carrascosa A. Fernández-Cancio M, et al. Among authors: carrascosa a. Sex Dev. 2017;11(2):70-77. doi: 10.1159/000468160. Epub 2017 Apr 4. Sex Dev. 2017. PMID: 28376482
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: carrascosa a. 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.
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: carrascosa a. 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.
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
270 results