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Page 1
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: galera mf. 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.
Contribution of miR-124 rs531564 polymorphism to the occurrence of congenital Zika syndrome.
Gomes JA, Vieira IA, Sgarioni E, Terças-Tretell ACP, da Silva JH, Ribeiro BF, Galera MF, de Oliveira TM, Carvalho de Andrade MDF, Carvalho IF, Schüler-Faccini L, Vianna FS. Gomes JA, et al. Among authors: galera mf. Epigenetics. 2023 Dec;18(1):2145061. doi: 10.1080/15592294.2022.2145061. Epub 2022 Nov 21. Epigenetics. 2023. PMID: 36411728 Free PMC article.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R. Josahkian JA, et al. Among authors: galera mf. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7. Am J Med Genet C Semin Med Genet. 2021. PMID: 33960103
Investigation of the impact of AXL, TLR3, and STAT2 in congenital Zika syndrome through genetic polymorphisms and protein-protein interaction network analyses.
Gomes JA, Sgarioni E, Boquett JA, Kowalski TW, Fraga LR, Terças-Trettel ACP, da Silva JH, Ribeiro BFR, Galera MF, de Oliveira TM, Carvalho de Andrade MDF, Carvalho IF, Schüler-Faccini L, Vianna FSL. Gomes JA, et al. Among authors: galera mf. Birth Defects Res. 2023 Oct 1;115(16):1500-1512. doi: 10.1002/bdr2.2232. Epub 2023 Aug 1. Birth Defects Res. 2023. PMID: 37526179
Functional Polymorphisms in the p53 Pathway Genes on the Genetic Susceptibility to Zika Virus Teratogenesis.
Gomes JA, Sgarioni E, Vieira IA, Fraga LR, Ashton-Prolla P, Terças-Tretell ACP, da Silva JH, Ribeiro BFR, Galera MF, de Oliveira TM, Carvalho de Andrade MDF, Carvalho IF, Schuler-Faccini L, Vianna FSL. Gomes JA, et al. Among authors: galera mf. Front Cell Infect Microbiol. 2021 Jul 7;11:641413. doi: 10.3389/fcimb.2021.641413. eCollection 2021. Front Cell Infect Microbiol. 2021. PMID: 34307186 Free PMC article.
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.
Alegra T, Sperb-Ludwig F, Guarany NR, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Horovitz DDG, Schwartz IVD. Alegra T, et al. Among authors: galera mf. J Pediatr Genet. 2019 Dec;8(4):198-204. doi: 10.1055/s-0039-1697605. Epub 2019 Sep 24. J Pediatr Genet. 2019. PMID: 31687257 Free PMC article.
30 results