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A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).
Madeira JL, Jorge AA, Martin RM, Montenegro LR, Franca MM, Costalonga EF, Correa FA, Otto AP, Arnhold IJ, Freitas HS, Machado UF, Mendonca BB, Carvalho LR. Madeira JL, et al. Among authors: carvalho lr. Eur J Endocrinol. 2016 Aug;175(2):K7-K15. doi: 10.1530/EJE-15-0149. Epub 2016 Jun 1. Eur J Endocrinol. 2016. PMID: 27252485
Craniofacial features with growth hormone treatment.
Carvalho LR, Faria ME, Mendonca BB. Carvalho LR, et al. J Pediatr. 2005 Feb;146(2):295; author reply 295-6. doi: 10.1016/j.jpeds.2004.08.032. J Pediatr. 2005. PMID: 15689931 No abstract available.
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.
Abrão MG, Leite MV, Carvalho LR, Billerbeck AE, Nishi MY, Barbosa AS, Martin RM, Arnhold IJ, Mendonca BB. Abrão MG, et al. Among authors: carvalho lr. Clin Endocrinol (Oxf). 2006 Sep;65(3):294-300. doi: 10.1111/j.1365-2265.2006.02592.x. Clin Endocrinol (Oxf). 2006. PMID: 16918947 Review.
Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.
Davis SW, Castinetti F, Carvalho LR, Ellsworth BS, Potok MA, Lyons RH, Brinkmeier ML, Raetzman LT, Carninci P, Mortensen AH, Hayashizaki Y, Arnhold IJ, Mendonça BB, Brue T, Camper SA. Davis SW, et al. Among authors: carvalho lr. Mol Cell Endocrinol. 2010 Jul 8;323(1):4-19. doi: 10.1016/j.mce.2009.12.012. Epub 2009 Dec 16. Mol Cell Endocrinol. 2010. PMID: 20025935 Free PMC article. Review.
263 results