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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA. Parthasarathy S, et al. Among authors: ribeiro bfr. Am J Hum Genet. 2022 Dec 1;109(12):2253-2269. doi: 10.1016/j.ajhg.2022.11.002. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413998 Free PMC article.
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM, Castro LP, Neto JPD, de Nóbrega AF, Pinto CAL, Ashton-Prolla P, Pinto E Vairo F, de Medeiros PFV, Ribeiro EM, Ribeiro BFR, do Valle FF, Doriqui MJR, Leite CHB, Rocha RM, Moura LMS, Munford V, Galante PAF, Menck CFM, Rogatto SR, Achatz MI. Santiago KM, et al. Among authors: ribeiro bfr. J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2392-2401. doi: 10.1111/jdv.16405. Epub 2020 May 21. J Eur Acad Dermatol Venereol. 2020. PMID: 32239545
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. Epigenetics. 2023 Dec;18(1):2145061. doi: 10.1080/15592294.2022.2145061. Epub 2022 Nov 21. Epigenetics. 2023. PMID: 36411728 Free PMC article.
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Horovitz DDG, Leão EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, Kerstenetzky M, Siqueira ACM, Ribeiro BFR, Kim CA, Santos FC, Franco JFS, Lichtvan LCL, Giuliani LR, Rodrigues MDCS, Bonatti RCF, Teixeira TB, Gonçalves A, Lourenço CM, Pereira ASS, Acosta AX. Horovitz DDG, et al. Among authors: ribeiro bfr. Mol Genet Metab. 2021 May;133(1):94-99. doi: 10.1016/j.ymgme.2021.02.006. Epub 2021 Feb 27. Mol Genet Metab. 2021. PMID: 33678523 Free article.
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: ribeiro bfr. 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: ribeiro bfr. 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.
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.
Horovitz DD, Magalhães TS, Acosta A, Ribeiro EM, Giuliani LR, Palhares DB, Kim CA, de Paula AC, Kerstenestzy M, Pianovski MA, Costa MI, Santos FC, Martins AM, Aranda CS, Correa Neto J, Holanda GB, Cardoso L Jr, da Silva CA, Bonatti RC, Ribeiro BF, Rodrigues Mdo C, Llerena JC Jr. Horovitz DD, et al. Mol Genet Metab. 2013 May;109(1):62-9. doi: 10.1016/j.ymgme.2013.02.014. Epub 2013 Mar 5. Mol Genet Metab. 2013. PMID: 23535281 Free article.