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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: montenegro 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
[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: montenegro lr. Arq Bras Endocrinol Metabol. 2007 Apr;51(3):450-6. doi: 10.1590/s0004-27302007000300014. Arq Bras Endocrinol Metabol. 2007. PMID: 17546245 Portuguese.
Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant.
Marchisotti FG, Jorge AA, Montenegro LR, Berger K, de Carvalho LR, Mendonca BB, Arnhold IJ. Marchisotti FG, et al. Among authors: montenegro lr. Growth Horm IGF Res. 2009 Apr;19(2):179-86. doi: 10.1016/j.ghir.2008.10.001. Epub 2008 Nov 25. Growth Horm IGF Res. 2009. PMID: 19036620
The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome.
Braz AF, Costalonga EF, Montenegro LR, Trarbach EB, Antonini SR, Malaquias AC, Ramos ES, Mendonca BB, Arnhold IJ, Jorge AA. Braz AF, et al. Among authors: montenegro lr. J Clin Endocrinol Metab. 2012 Apr;97(4):E671-7. doi: 10.1210/jc.2011-2521. Epub 2012 Jan 25. J Clin Endocrinol Metab. 2012. PMID: 22278433 Free article.
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Macedo DB, et al. Among authors: montenegro lr. J Clin Endocrinol Metab. 2014 Jun;99(6):E1097-103. doi: 10.1210/jc.2013-3126. Epub 2014 Mar 14. J Clin Endocrinol Metab. 2014. PMID: 24628548 Free PMC article.
45 results