Jorge AAL - Search Results

1

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N. Imagawa E, et al. Among authors: jorge aal. Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6. Clin Genet. 2018. PMID: 30019515 Free article.

2

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. 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

3

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

Almeida MQ, Soares IC, Ribeiro TC, Fragoso MC, Marins LV, Wakamatsu A, Ressio RA, Nishi MY, Jorge AA, Lerario AM, Alves VA, Mendonca BB, Latronico AC. Almeida MQ, et al. J Clin Endocrinol Metab. 2010 Mar;95(3):1458-62. doi: 10.1210/jc.2009-2040. Epub 2010 Jan 15. J Clin Endocrinol Metab. 2010. PMID: 20080844

4

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.

França MM, Jorge AA, Alatzoglou KS, Carvalho LR, Mendonca BB, Audi L, Carrascosa A, Dattani MT, Arnhold IJ. França MM, et al. J Clin Endocrinol Metab. 2011 Sep;96(9):E1457-60. doi: 10.1210/jc.2011-0170. Epub 2011 Jun 29. J Clin Endocrinol Metab. 2011. PMID: 21715545

5

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

Malaquias AC, Brasil AS, Pereira AC, Arnhold IJ, Mendonca BB, Bertola DR, Jorge AA. Malaquias AC, et al. Am J Med Genet A. 2012 Nov;158A(11):2700-6. doi: 10.1002/ajmg.a.35519. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887833

6

The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.

Kaupert LC, Lemos-Marini SH, De Mello MP, Moreira RP, Brito VN, Jorge AA, Longui CA, Guerra G Jr, Mendonca BB, Bachega TA. Kaupert LC, et al. Clin Genet. 2013 Nov;84(5):482-8. doi: 10.1111/cge.12016. Epub 2012 Oct 8. Clin Genet. 2013. PMID: 22978668

7

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.

Marui S, Trarbach EB, Boguszewski MC, França MM, Jorge AA, Inoue H, Nishi MY, de Lacerda Filho L, Aguiar-Oliveira MH, Mendonca BB, Arnhold IJ. Marui S, et al. Horm Res Paediatr. 2012;78(3):165-72. doi: 10.1159/000342760. Epub 2012 Oct 10. Horm Res Paediatr. 2012. PMID: 23052699 Clinical Trial.

8

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age.

Coletta RR, Jorge AA, D'Alva CB, Pinto EM, Billerbeck AE, Pachi PR, Longui CA, Garcia RM, Boguszewski M, Arnhold IJ, Mendonca BB, Costa EM. Coletta RR, et al. Clinics (Sao Paulo). 2013 Jun;68(6):785-91. doi: 10.6061/clinics/2013(06)10. Clinics (Sao Paulo). 2013. PMID: 23778474 Free PMC article.

9

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M. Bear KA, et al. J Med Genet. 2014 Jun;51(6):413-8. doi: 10.1136/jmedgenet-2013-102249. Epub 2014 Apr 17. J Med Genet. 2014. PMID: 24744436 Free PMC article.

10

Further evidence of the importance of RIT1 in Noonan syndrome.

Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC. Bertola DR, et al. Am J Med Genet A. 2014 Nov;164A(11):2952-7. doi: 10.1002/ajmg.a.36722. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25124994

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