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22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
de Wallau MB, Xavier AC, Moreno CA, Kim CA, Mendes EL, Ribeiro EM, Oliveira A, Félix TM, Fett-Conte AC, Bonadia LC, Correia-Costa GR, Monlleó IL, Gil-da-Silva-Lopes VL, Vieira TP. de Wallau MB, et al. Among authors: ribeiro em. Genes (Basel). 2024 Apr 21;15(4):518. doi: 10.3390/genes15040518. Genes (Basel). 2024. PMID: 38674452 Free PMC article.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Montenegro YHA, Kubaski F, Trapp FB, Riegel-Giugliani M, Souza CFM, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Vairo FPE, Baldo G, Giugliani R, Poswar FO. Montenegro YHA, et al. Among authors: ribeiro em. Genet Mol Biol. 2024 Mar 8;47(1):e20230285. doi: 10.1590/1678-4685-GMB-2023-0285. eCollection 2024. Genet Mol Biol. 2024. PMID: 38488524 Free PMC article.
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP, Altmann V, Vairo FPE, Schwartz IVD, Siebert M; MilitaoBrazilian Collaborative Group on Gaucher Disease. Basgalupp SP, et al. Mol Genet Metab Rep. 2023 Sep 9;37:101006. doi: 10.1016/j.ymgmr.2023.101006. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053927 Free PMC article.
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.
Braga VLL, Lima DP, Mariano TC, Lima PLGSB, Maia ABA, da Silva Meireles WW, de Oliveira Pessoa KT, de Oliveira CM, Ribeiro EM, Nóbrega PR, Pessoa ALS. Braga VLL, et al. Among authors: ribeiro em. Brain Sci. 2023 Oct 28;13(11):1521. doi: 10.3390/brainsci13111521. Brain Sci. 2023. PMID: 38002481 Free PMC article.
160 results