Jorge AA - Search Results

1

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: jorge aa. 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

2

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

Osorio MG, Marui S, Jorge AA, Latronico AC, Lo LS, Leite CC, Estefan V, Mendonca BB, Arnhold IJ. Osorio MG, et al. Among authors: jorge aa. J Clin Endocrinol Metab. 2002 Nov;87(11):5076-84. doi: 10.1210/jc.2001-011936. J Clin Endocrinol Metab. 2002. PMID: 12414875

3

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.

Jorge AA, Souza SC, Arnhold IJ, Mendonca BB. Jorge AA, et al. Clin Endocrinol (Oxf). 2004 Jan;60(1):36-40. doi: 10.1111/j.1365-2265.2004.01930.x. Clin Endocrinol (Oxf). 2004. PMID: 14678285

4

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

Ferreira LV, Souza SA, Arnhold IJ, Mendonca BB, Jorge AA. Ferreira LV, et al. Among authors: jorge aa. J Clin Endocrinol Metab. 2005 Sep;90(9):5156-60. doi: 10.1210/jc.2004-2559. Epub 2005 Jun 14. J Clin Endocrinol Metab. 2005. PMID: 15956085

5

Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

Jorge AA, Marchisotti FG, Montenegro LR, Carvalho LR, Mendonca BB, Arnhold IJ. Jorge AA, et al. J Clin Endocrinol Metab. 2006 Mar;91(3):1076-80. doi: 10.1210/jc.2005-2005. Epub 2005 Nov 15. J Clin Endocrinol Metab. 2006. PMID: 16291702

6

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB. Jorge AA, et al. Clin Endocrinol (Oxf). 2007 Jan;66(1):130-5. doi: 10.1111/j.1365-2265.2006.02698.x. Clin Endocrinol (Oxf). 2007. PMID: 17201812

7

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

Ferreira LV, Souza SA, Montenegro LR, Arnhold IJ, Pasqualini T, Heinrich JJ, Keselman AC, Mendonça BB, Jorge AA. Ferreira LV, et al. Among authors: jorge aa. Arq Bras Endocrinol Metabol. 2007 Apr;51(3):450-6. doi: 10.1590/s0004-27302007000300014. Arq Bras Endocrinol Metabol. 2007. PMID: 17546245 Portuguese.

8

Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature.

Toyoshima MT, Castroneves LA, Costalonga EF, Mendonca BB, Arnhold IJ, Jorge AA. Toyoshima MT, et al. Among authors: jorge aa. Clin Endocrinol (Oxf). 2007 Oct;67(4):500-4. doi: 10.1111/j.1365-2265.2007.02915.x. Epub 2007 Jun 7. Clin Endocrinol (Oxf). 2007. PMID: 17555512

9

Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment.

Coutinho DC, Coletta RR, Costa EM, Pachi PR, Boguszewski MC, Damiani D, Mendonca BB, Arnhold IJ, Jorge AA. Coutinho DC, et al. Among authors: jorge aa. J Clin Endocrinol Metab. 2007 Dec;92(12):4889-92. doi: 10.1210/jc.2007-1661. Epub 2007 Sep 25. J Clin Endocrinol Metab. 2007. PMID: 17895313

10

Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature.

Jorge AA, Arnhold IJ. Jorge AA, et al. J Med Genet. 2007 Oct;44(10):e90; author reply e91. J Med Genet. 2007. PMID: 17911654 Free PMC article. No abstract available.

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