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Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.
Júnior HM, de Aquino SN, Machado RA, Leão LL, Coletta RD, Burle-Aguiar MJ. Júnior HM, et al. Among authors: machado ra. Med Oral Patol Oral Cir Bucal. 2015 Jan 1;20(1):e52-8. doi: 10.4317/medoral.20032. Med Oral Patol Oral Cir Bucal. 2015. PMID: 25129254 Free PMC article.
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.
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
Clinical and molecular analysis in Papillon-Lefèvre syndrome.
Machado RA, Cuadra-Zelaya FJM, Martelli-Júnior H, Miranda RT, Casarin RCV, Corrêa MG, Nociti F, Coletta RD. Machado RA, et al. Am J Med Genet A. 2019 Oct;179(10):2124-2131. doi: 10.1002/ajmg.a.61285. Epub 2019 Jul 7. Am J Med Genet A. 2019. PMID: 31282082
218 results