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Year Number of Results
2012 1
2014 2
2015 1
2016 1
2017 2
2018 2
2019 1
2020 1
2021 3
2022 2
2024 1

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15 results

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Page 1
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Giugliani R, Barth AL, Dumas MRC, da Silva Franco JF, de Rosso Giuliani L, Grangeiro CHP, Horovitz DDG, Kim CA, de Araújo Leão EKE, de Medeiros PFV, Miguel DSCG, Moreira MESA, Dos Santos HMGP, da Silva LCS, da Silva LR, de Souza IN, Nalin T, Garcia D. Giugliani R, et al. Among authors: de medeiros pfv. Orphanet J Rare Dis. 2021 May 22;16(1):238. doi: 10.1186/s13023-021-01870-w. Orphanet J Rare Dis. 2021. PMID: 34022924 Free PMC article. Review.
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.
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.
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: de medeiros pfv. 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
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
Dos Santos-Lopes SS, de Oliveira JMF, de Queiroga Nascimento D, Montenegro YHA, Leistner-Segal S, Brusius-Facchin AC, Eufrazino Gondim C, Giugliani R, de Medeiros PFV. Dos Santos-Lopes SS, et al. Among authors: de medeiros pfv. Am J Med Genet A. 2021 Oct;185(10):2929-2940. doi: 10.1002/ajmg.a.62375. Epub 2021 Jun 2. Am J Med Genet A. 2021. PMID: 34076347
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T, Sperb-Ludwig F, Lima SE, Carvalho MRS, Fonseca PAS, Camelo JS Jr, Ribeiro EM, de Medeiros PFV, Lourenço CM, de Souza CFM, Boy R, Félix TM, Bittar CM, Pinto LLC, Neto EC, Blom HJ, Schwartz IVD. Borsatto T, et al. Among authors: de medeiros pfv. PLoS One. 2017 Jun 22;12(6):e0180463. doi: 10.1371/journal.pone.0180463. eCollection 2017. PLoS One. 2017. PMID: 28640880 Free PMC article.
Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.
de Castilhos RM, Furtado GV, Gheno TC, Schaeffer P, Russo A, Barsottini O, Pedroso JL, Salarini DZ, Vargas FR, de Lima MA, Godeiro C, Santana-da-Silva LC, Toralles MB, Santos S, van der Linden H Jr, Wanderley HY, de Medeiros PF, Pereira ET, Ribeiro E, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica. de Castilhos RM, et al. Cerebellum. 2014 Feb;13(1):17-28. doi: 10.1007/s12311-013-0510-y. Cerebellum. 2014. PMID: 23943520
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.
Scaini G, Tonon T, Moura de Souza CF, Schuck PF, Ferreira GC, Quevedo J, Neto JS, Amorim T, Camelo JS Jr, Margutti AVB, Hencke Tresbach R, Sperb-Ludwig F, Boy R, de Medeiros PFV, Schwartz IVD, Streck EL. Scaini G, et al. Among authors: de medeiros pfv. J Inherit Metab Dis. 2018 May 8. doi: 10.1007/s10545-018-0188-x. Online ahead of print. J Inherit Metab Dis. 2018. PMID: 29740775
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: de medeiros pfv. 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
15 results