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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: santana da silva lc. 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
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Dornelles AD, de Camargo Pinto LL, de Paula AC, Steiner CE, Lourenço CM, Kim CA, Horovitz DD, Ribeiro EM, Valadares ER, Goulart I, Neves de Souza IC, da Costa Neri JI, Santana-da-Silva LC, Silva LR, Ribeiro M, de Oliveira Sobrinho RP, Giugliani R, Schwartz IV. Dornelles AD, et al. Genet Mol Biol. 2014 Mar;37(1):23-9. doi: 10.1590/s1415-47572014000100006. Epub 2013 Feb 28. Genet Mol Biol. 2014. PMID: 24688287 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
Molecular characterization of phenylketonuria in South Brazil.
Santana da Silva LC, Carvalho TS, da Silva FB, Morari L, Fachel AA, Pires R, Refosco LF, Desnick RJ, Giugliani R, Saraiva Pereira ML. Santana da Silva LC, et al. Mol Genet Metab. 2003 May;79(1):17-24. doi: 10.1016/s1096-7192(03)00032-5. Mol Genet Metab. 2003. PMID: 12765842
Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint.
Cavaleiro RM, Pinheiro Md, Pinheiro LR, Tuji FM, Feio Pdo S, de Souza IC, Feio RH, de Almeida SC, Schwartz IV, Giugliani R, Pinheiro JJ, Santana-da-Silva LC. Cavaleiro RM, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Aug;116(2):e141-8. doi: 10.1016/j.oooo.2013.04.021. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013. PMID: 23849382
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.
Jardim LB, Hasan A, Kuo SH, Magaña JJ, França M Jr, Marques W Jr, Camejo C, Santana-da-Silva LC, Leão EE, Espíndola G, Canals F, Miranda M, Salvatierra I, Cornejo-Olivas M, Fernandez-Ruiz J, Braga-Neto P, Dávila-Ortiz de Montellano DJ, Flores-Lagunes LL, Dupré N, Brais B, Vargas FR, Godeiro C, Coutinho L, Teive HG, Kaufmann M, Saffie P, Furtado GV, Saraiva-Pereira ML, Barsottini O, Pedroso JL, Rodríguez-Labrada R, Velázquez-Pérez L, Gomez C; PAHAN. Jardim LB, et al. Among authors: santana da silva lc. Cerebellum. 2023 Aug;22(4):708-718. doi: 10.1007/s12311-022-01442-z. Epub 2022 Jul 7. Cerebellum. 2023. PMID: 35796998 Free PMC article.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: santana da silva lc. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
18 results