Malaquias AC - Search Results

1

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

2

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

Ferreira LV, Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, Jorge AA. Ferreira LV, et al. Among authors: malaquias ac. Clin Endocrinol (Oxf). 2008 Sep;69(3):426-31. doi: 10.1111/j.1365-2265.2008.03234.x. Epub 2008 Mar 10. Clin Endocrinol (Oxf). 2008. PMID: 18331608

3

[Noonan syndrome: from phenotype to growth hormone therapy].

Malaquias AC, Ferreira LV, Souza SC, Arnhold IJ, Mendonça BB, Jorge AA. Malaquias AC, et al. Arq Bras Endocrinol Metabol. 2008 Jul;52(5):800-8. doi: 10.1590/s0004-27302008000500012. Arq Bras Endocrinol Metabol. 2008. PMID: 18797587 Review. Portuguese.

4

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB. Jorge AA, et al. Among authors: malaquias ac. Horm Res. 2009;71(4):185-93. doi: 10.1159/000201106. Epub 2009 Mar 4. Horm Res. 2009. PMID: 19258709 Review.

5

Abnormal growth in noonan syndrome: the challenge of optimal therapy.

Savage MO, Padidela R, Kirk JM, Malaquias AC, Jorge AA. Savage MO, et al. Among authors: malaquias ac. Pediatr Endocrinol Rev. 2009 Jun;6 Suppl 4:523-8. Pediatr Endocrinol Rev. 2009. PMID: 19550387 Review.

6

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

Brasil AS, Pereira AC, Wanderley LT, Kim CA, Malaquias AC, Jorge AA, Krieger JE, Bertola DR. Brasil AS, et al. Among authors: malaquias ac. Genet Test Mol Biomarkers. 2010 Jun;14(3):425-32. doi: 10.1089/gtmb.2009.0192. Genet Test Mol Biomarkers. 2010. PMID: 20578946

7

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

Brasil AS, Malaquias AC, Wanderley LT, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR. Brasil AS, et al. Among authors: malaquias ac. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):717-22. doi: 10.1590/s0004-27302010000800009. Arq Bras Endocrinol Metabol. 2010. PMID: 21340158

8

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: malaquias ac. 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.

9

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.

Quaio CR, Carvalho JF, da Silva CA, Bueno C, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR. Quaio CR, et al. Among authors: malaquias ac. Am J Med Genet A. 2012 May;158A(5):1077-82. doi: 10.1002/ajmg.a.35290. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488759

10

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis.

Brasil AS, Malaquias AC, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR. Brasil AS, et al. Among authors: malaquias ac. Am J Med Genet A. 2012 May;158A(5):1178-84. doi: 10.1002/ajmg.a.35270. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488932

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