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NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.
Sales-Marques C, Salomão H, Fava VM, Alvarado-Arnez LE, Amaral EP, Cardoso CC, Dias-Batista IM, da Silva WL, Medeiros P, da Cunha Lopes Virmond M, Lana FC, Pacheco AG, Moraes MO, Mira MT, Pereira Latini AC. Sales-Marques C, et al. Hum Genet. 2014 Dec;133(12):1525-32. doi: 10.1007/s00439-014-1502-9. Epub 2014 Nov 4. Hum Genet. 2014. PMID: 25367361
Toll-like receptor 1 N248S single-nucleotide polymorphism is associated with leprosy risk and regulates immune activation during mycobacterial infection.
Marques Cde S, Brito-de-Souza VN, Guerreiro LT, Martins JH, Amaral EP, Cardoso CC, Dias-Batista IM, Silva WL, Nery JA, Medeiros P, Gigliotti P, Campanelli AP, Virmond M, Sarno EN, Mira MT, Lana FC, Caffarena ER, Pacheco AG, Pereira AC, Moraes MO. Marques Cde S, et al. J Infect Dis. 2013 Jul;208(1):120-9. doi: 10.1093/infdis/jit133. Epub 2013 Apr 1. J Infect Dis. 2013. PMID: 23547143
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
de Oliveira BM, Bernardi FA, Baiochi JF, Neiva MB, Artifon M, Vergara AA, Martins AM, Grumach AS, Acosta AX, Husny ASE, de Freitas Rodrigues Ribeiro B, Ramos CF, Steiner CE, Kim CA, Christofolini DM, Yamada DB, Carvalho EDF, Ribeiro EM, de Arruda Bastos F, Serpa FS, Brandão FR, Adjuto GMAF, Carvalho I, Saute JAM, Junior JCL, Bueno LSM, da Silva LCS, Santos MLSF, Costa MCM, Giusti MMCG, Galera MF, Filho MEC, de Andrade MDFC, De Oliveira Cardoso MT, de Menezes Ferreira MM, Zeny M, Caldato MCF, Sorte NB, Musolino NRC, de Medeiros PFV, Zen PRG, Da Silva RTB, Maia RE, Fock R, Almeida RES, Valle SOR, Amorim T, Teixeira TB, Prazeres VMG, de Faria Ferraz VE, Lima VC, Paiva WJM, Schwartz IVD, Alves D, Félix TM; Raras Network Group. de Oliveira BM, et al. Among authors: de medeiros pfv. Orphanet J Rare Dis. 2024 Oct 30;19(1):405. doi: 10.1186/s13023-024-03392-7. Orphanet J Rare Dis. 2024. PMID: 39478612 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
45 results