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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.
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.
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
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV. Cury GK, et al. Among authors: galera mf. Gene. 2013 Jul 15;524(1):59-64. doi: 10.1016/j.gene.2013.03.105. Epub 2013 Apr 6. Gene. 2013. PMID: 23566849 Free 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: galera mf. Sci Rep. 2018 Sep 6;8(1):13382. doi: 10.1038/s41598-018-31754-2. Sci Rep. 2018. PMID: 30190605 Free PMC article.
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S, Matte U, Habekost CT, de Castilhos RM, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB. Pereira Fdos S, et al. Among authors: galera mf. PLoS One. 2012;7(3):e34195. doi: 10.1371/journal.pone.0034195. Epub 2012 Mar 29. PLoS One. 2012. PMID: 22479560 Free PMC article.
30 results