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rs1801133C>T polymorphism in MTHFR is a risk factor for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
de Aguiar PK, Coletta RD, de Oliveira AM, Machado RA, Furtado PG, de Oliveira LA, de Aquino SN, Martelli-Junior H, de Almeida Reis SR, Moreira HS, Persuhn DC. de Aguiar PK, et al. Among authors: machado ra. Birth Defects Res A Clin Mol Teratol. 2015 Apr;103(4):292-8. doi: 10.1002/bdra.23365. Epub 2015 Mar 24. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25808365
Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.
do Rego Borges A, Sá J, Hoshi R, Viena CS, Mariano LC, de Castro Veiga P, Medrado AP, Machado RA, de Aquino SN, Messetti AC, Spritz RA, Coletta RD, Reis SR. do Rego Borges A, et al. Among authors: machado ra. Am J Med Genet A. 2015 Oct;167A(10):2344-9. doi: 10.1002/ajmg.a.37181. Epub 2015 Jul 22. Am J Med Genet A. 2015. PMID: 26198054
EDA mutation by exome sequencing in non-syndromic X-linked oligodontia.
Martins L, Machado RA, Araujo DS, Giovani PA, Rebouças PD, Rodrigues LP, Mofatto LS, Ribeiro MM, Coutinho LL, Puppin-Rontani RM, Coletta RD, Nociti FH Jr, Kantovitz KR. Martins L, et al. Among authors: machado ra. Clin Genet. 2017 Aug;92(2):227-229. doi: 10.1111/cge.12961. Epub 2017 Mar 19. Clin Genet. 2017. PMID: 28052341 No abstract available.
Clinical and genetic analysis of patients with cherubism.
Machado RA, Pontes H, Pires FR, Silveira HM, Bufalino A, Carlos R, Tuji FM, Alves D, Santos-Silva AR, Lopes MA, Capistrano HM, Coletta RD, Fonseca FP. Machado RA, et al. Oral Dis. 2017 Nov;23(8):1109-1115. doi: 10.1111/odi.12705. Epub 2017 Jul 21. Oral Dis. 2017. PMID: 28644570
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.
Machado RA, Ferreira SB, Martins L, Ribeiro MM, Martelli DRB, Coletta RD, Aguiar MJB, Martelli-Júnior H. Machado RA, et al. Am J Med Genet A. 2017 Oct;173(10):2838-2843. doi: 10.1002/ajmg.a.38389. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815901 No abstract available.
236 results