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Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Richieri-Costa A, Zechi-Ceide RM, Candido-Souza RM, Monteiro RAC, Tonello C, de Freitas ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Richieri-Costa A, et al. Am J Med Genet A. 2019 Nov;179(11):2170-2177. doi: 10.1002/ajmg.a.61305. Epub 2019 Jul 28. Am J Med Genet A. 2019. PMID: 31353810
Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.
Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A. Guion-Almeida ML, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3252-66. doi: 10.1002/ajmg.a.32090. Am J Med Genet A. 2007. PMID: 17985375
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DV, Murray JC, Richieri-Costa A. Kokitsu-Nakata NM, et al. Am J Med Genet A. 2012 Aug;158A(8):2003-8. doi: 10.1002/ajmg.a.35454. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740433 Free PMC article.
Mandibulofacial dysostosis Bauru type: Refining the phenotype.
Moura PP, Kokitsu-Nakata NM, Yatabe MS, Vendramini-Pittoli S, Hori PH, Guion-Almeida ML, Garib DG, Richieri-Costa A, Zechi-Ceide RM. Moura PP, et al. Am J Med Genet A. 2017 Jul;173(7):1747-1753. doi: 10.1002/ajmg.a.38257. Epub 2017 May 30. Am J Med Genet A. 2017. PMID: 28558149
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR. Zechi-Ceide RM, et al. Eur J Med Genet. 2008 May-Jun;51(3):183-96. doi: 10.1016/j.ejmg.2007.12.008. Epub 2008 Jan 9. Eur J Med Genet. 2008. PMID: 18276201
190 results