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Page 1
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
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.
Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.
de Almeida-Barros RQ, de Medeiros PFV, de Almeida Azevedo MQ, de Oliveira Lira Ortega A, Yamamoto ATA, Dornelas SKL, Bento PM. de Almeida-Barros RQ, et al. Among authors: de medeiros pfv, de oliveira lira ortega a, de almeida azevedo mq. Clin Oral Investig. 2018 Jan;22(1):201-208. doi: 10.1007/s00784-017-2100-8. Epub 2017 Mar 19. Clin Oral Investig. 2018. PMID: 28315965
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.
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