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Page 1
Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America.
Solano M, Fainboim A, Politei J, Porras-Hurtado GL, Martins AM, Souza CFM, Koch FM, Amartino H, Satizábal JM, Horovitz DDG, Medeiros PFV, Honjo RS, Lourenço CM. Solano M, et al. Among authors: medeiros pfv. Mol Genet Metab Rep. 2020 Feb 27;23:100572. doi: 10.1016/j.ymgmr.2020.100572. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32140416 Free PMC article.
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.
Ceroni JRM, Dutra RL, Honjo RS, Llerena JC Jr, Acosta AX, Medeiros PFV, Galera MF, Zanardo ÉA, Piazzon FB, Dias AT, Novo-Filho GM, Montenegro MM, Madia FAR, Bertola DR, de Melo JB, Kulikowski LD, Kim CA. Ceroni JRM, et al. Among authors: medeiros pfv. Sci Rep. 2018 Sep 6;8(1):13382. doi: 10.1038/s41598-018-31754-2. Sci Rep. 2018. PMID: 30190605 Free PMC article.
The phenotypic spectrum of congenital Zika syndrome.
Del Campo M, Feitosa IM, Ribeiro EM, Horovitz DD, Pessoa AL, França GV, García-Alix A, Doriqui MJ, Wanderley HY, Sanseverino MV, Neri JI, Pina-Neto JM, Santos ES, Verçosa I, Cernach MC, Medeiros PF, Kerbage SC, Silva AA, van der Linden V, Martelli CM, Cordeiro MT, Dhalia R, Vianna FS, Victora CG, Cavalcanti DP, Schuler-Faccini L; Zika Embryopathy Task Force-Brazilian Society of Medical Genetics ZETF-SBGM. Del Campo M, et al. Am J Med Genet A. 2017 Apr;173(4):841-857. doi: 10.1002/ajmg.a.38170. Am J Med Genet A. 2017. PMID: 28328129
ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
Pereira FS, Monte TL, Locks-Coelho LD, Silva AS, Barsottini O, Pedroso JL, Cornejo-Olivas M, Mazzetti P, Godeiro C, Vargas FR, Lima MA, van der Linden H Jr, Toralles MB, Medeiros PF, Ribeiro E, Braga-Neto P, Salarini D, Castilhos RM, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica. Pereira FS, et al. Cerebellum. 2015 Dec;14(6):728-30. doi: 10.1007/s12311-015-0666-8. Cerebellum. 2015. PMID: 25869926 No abstract available.
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.
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. Among authors: medeiros pfv. Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14. Mol Syndromol. 2017. PMID: 28878606 Free PMC article.
Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts.
Vaisbich MH, de Cillo ACP, Silva BCC, DÁlva CB, de Carvalho ÉH, de Almeida JMCM, Marques LLM, Ribeiro M, da Silva MBM, de Medeiros PFV, Mendes PH. Vaisbich MH, et al. Among authors: de medeiros pfv. Mol Genet Genomic Med. 2024 Feb;12(2):e2387. doi: 10.1002/mgg3.2387. Mol Genet Genomic Med. 2024. PMID: 38337160 Free PMC article.
Spinocerebellar ataxia type 2 has multiple ancestral origins.
Sena LS, Furtado GV, Pedroso JL, Barsottini O, Cornejo-Olivas M, Nóbrega PR, Braga Neto P, Soares DMB, Vargas FR, Godeiro C, Medeiros PFV, Camejo C, Toralles MBP, Fagundes NJR, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica. Sena LS, et al. Among authors: medeiros pfv. Parkinsonism Relat Disord. 2024 Mar;120:105985. doi: 10.1016/j.parkreldis.2023.105985. Epub 2023 Dec 31. Parkinsonism Relat Disord. 2024. PMID: 38181536
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
Llerena J Jr, Kim CA, Fano V, Rosselli P, Collett-Solberg PF, de Medeiros PFV, Del Pino M, Bertola D, Lourenço CM, Cavalcanti DP, Félix TM, Rosa-Bellas A, Rossi NT, Cortes F, Abreu F, Cavalcanti N, Ruz MCH, Baratela W. Llerena J Jr, et al. Among authors: de medeiros pfv. BMC Pediatr. 2022 Aug 19;22(1):492. doi: 10.1186/s12887-022-03505-w. BMC Pediatr. 2022. PMID: 35986266 Free PMC article.
28 results