Malaquias AC - Search Results

1

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.

Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Homma TK, et al. Among authors: malaquias ac. J Pediatr. 2019 Dec;215:192-198. doi: 10.1016/j.jpeds.2019.08.024. Epub 2019 Oct 17. J Pediatr. 2019. PMID: 31630891

2

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

3

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

4

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

5

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

6

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

7

Tegumentary manifestations of Noonan and Noonan-related syndromes.

Quaio CR, de Almeida TF, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR. Quaio CR, et al. Among authors: malaquias ac. Clinics (Sao Paulo). 2013;68(8):1079-83. doi: 10.6061/clinics/2013(08)03. Clinics (Sao Paulo). 2013. PMID: 24037001 Free PMC article.

8

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.

Malaquias AC, Scalco RC, Fontenele EG, Costalonga EF, Baldin AD, Braz AF, Funari MF, Nishi MY, Guerra-Junior G, Mendonca BB, Arnhold IJ, Jorge AA. Malaquias AC, et al. Horm Res Paediatr. 2013;80(6):449-56. doi: 10.1159/000355411. Epub 2013 Nov 26. Horm Res Paediatr. 2013. PMID: 24296787

9

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Canton AP, Costa SS, Rodrigues TC, Bertola DR, Malaquias AC, Correa FA, Arnhold IJ, Rosenberg C, Jorge AA. Canton AP, et al. Among authors: malaquias ac. Eur J Endocrinol. 2014 Aug;171(2):253-62. doi: 10.1530/EJE-14-0232. Epub 2014 May 30. Eur J Endocrinol. 2014. PMID: 24878679

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. Among authors: malaquias ac. 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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