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Page 1
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Monteiro RAC, de Freitas ML, Vianna GS, de Oliveira VT, Pietra RX, Ferreira LCA, Rocha PPO, da S Gonçalves M, da C César G, de S Lima J, Medeiros PFV, Mazzeu JF, Jehee FS. Monteiro RAC, et al. Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14. Mol Syndromol. 2017. PMID: 28878606 Free PMC article.
Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.
Vianna GS, Freitas ML, Oliveira VT, Pietra RX, Gonçalves MD, Rocha PP, Monteiro RA, Ferreira LC, Xavier RR, Carvalho AM, Lima PR, Monteiro MA, Mateo EC, Giannetti JG, César GD, Lima JS, Medeiros PF, Jehee FS. Vianna GS, et al. Mol Syndromol. 2016 Nov;7(6):329-336. doi: 10.1159/000450631. Epub 2016 Nov 1. Mol Syndromol. 2016. PMID: 27920636 Free PMC article.
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. Among authors: monteiro rac. 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
Melatonin and Caffeine Supplementation Used, Respectively, as Protective and Stimulating Agents in the Cryopreservation of Human Sperm Improves Survival, Viability, and Motility after Thawing compared to Traditional TEST-Yolk Buffer.
Pariz JR, Ranéa C, Monteiro RAC, Evenson DP, Drevet JR, Hallak J. Pariz JR, et al. Among authors: monteiro rac. Oxid Med Cell Longev. 2019 Oct 23;2019:6472945. doi: 10.1155/2019/6472945. eCollection 2019. Oxid Med Cell Longev. 2019. PMID: 31781344 Free PMC article. Clinical Trial.