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Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
Correa FA, França MM, Fang Q, Ma Q, Bachega TA, Rodrigues A, Ozel BA, Li JZ, Mendonca BB, Jorge AAL, Carvalho LR, Camper SA, Arnhold IJP. Correa FA, et al. Arch Endocrinol Metab. 2017 Dec;61(6):633-636. doi: 10.1590/2359-3997000000311. Arch Endocrinol Metab. 2017. PMID: 29412390 Free PMC article.
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: correa fa. 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
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abrão M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR. Madeira JL, et al. Among authors: correa fa. Clin Endocrinol (Oxf). 2017 Dec;87(6):725-732. doi: 10.1111/cen.13430. Epub 2017 Sep 4. Clin Endocrinol (Oxf). 2017. PMID: 28734020
Update on new GH-IGF axis genetic defects.
Vasques GA, Andrade NLM, Correa FA, Jorge AAL. Vasques GA, et al. Among authors: correa fa. Arch Endocrinol Metab. 2019 Nov-Dec;63(6):608-617. doi: 10.20945/2359-3997000000191. Arch Endocrinol Metab. 2019. PMID: 31939486 Free PMC article. Review.
22 results