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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: malaga dr. 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
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
Josahkian JA, Trapp FB, Burin MG, Michelin-Tirelli K, Magalhães APPS, Sebastião FM, Bender F, Mari JF, Brusius-Facchin AC, Leistner-Segal S, Málaga DR, Giugliani R. Josahkian JA, et al. Among authors: malaga dr. Genet Mol Biol. 2021 Jan 27;44(1):e20200138. doi: 10.1590/1678-4685-GMB-2020-0138. eCollection 2021. Genet Mol Biol. 2021. PMID: 33503199 Free PMC article.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR, Brusius-Facchin AC, Siebert M, Pasqualim G, Saraiva-Pereira ML, Souza CFM, Schwartz IVD, Matte U, Giugliani R. Málaga DR, et al. Genet Mol Biol. 2019;42(1 suppl 1):197-206. doi: 10.1590/1678-4685-GMB-2018-0092. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985853 Free PMC article.
Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population.
Elias DE, Santos MR, Campaña H, Poletta FA, Heisecke SL, Gili JA, Ratowiecki J, Cosentino V, Uranga R, Málaga DR, Netto ABO, Brusius-Facchin AC, Saleme C, Rittler M, Krupitzki HB, Camelo JSL, Gimenez LG. Elias DE, et al. Among authors: malaga dr. J Community Genet. 2022 Dec;13(6):557-565. doi: 10.1007/s12687-022-00605-z. Epub 2022 Aug 17. J Community Genet. 2022. PMID: 35976607 Free PMC article.
[Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification].
Huamán-Dianderas FD, Guevara-Fujita ML, Málaga DR, Estrada-Cuzcano A, Fujita R. Huamán-Dianderas FD, et al. Among authors: malaga dr. Rev Peru Med Exp Salud Publica. 2019 Jul-Sep;36(3):475-480. doi: 10.17843/rpmesp.2019.363.4085. Epub 2019 Dec 2. Rev Peru Med Exp Salud Publica. 2019. PMID: 31800942 Spanish.
Gene-environment interactions and preterm birth predictors: A Bayesian network approach.
Elias DE, Santos MR, Campaña H, Poletta FA, Heisecke SL, Gili JA, Ratowiecki J, Cosentino VR, Uranga R, Málaga DR, Oliveira Netto AB, Brusius-Facchin AC, Saleme C, Rittler M, Krupitzki HB, Camelo JSL, Gimenez LG. Elias DE, et al. Among authors: malaga dr. Genet Mol Biol. 2024 Jan 19;46(4):e20230090. doi: 10.1590/1678-4685-GMB-2023-0090. eCollection 2024. Genet Mol Biol. 2024. PMID: 38285431 Free PMC article.