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The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Nogueira C, Pereira C, Silva L, Laranjeira M, Lopes A, Neiva R, Rodrigues E, Campos T, Martins E, Bandeira A, Coelho M, Magalhães M, Damásio J, Gaspar A, Janeiro P, Gomes AL, Ferreira AC, Jacinto S, Vieira JP, Diogo L, Santos H, Mendonça C, Vilarinho L. Nogueira C, et al. Front Cell Dev Biol. 2024 Feb 23;12:1331351. doi: 10.3389/fcell.2024.1331351. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38465286 Free PMC article.
Neonatal Glycogen Storage Disease Type IA: A Rare Presentation.
Tenente J, Campos T, Vasconcelos C, Santos H, Carvalho M, Ramos A, Vilarinho L, Rodrigues E, Teles EL. Tenente J, et al. Endocr Metab Immune Disord Drug Targets. 2023 Oct 19. doi: 10.2174/0118715303278622231006102118. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37859321
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L. Nogueira C, et al. Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1. Mitochondrion. 2019. PMID: 30831263
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F, Azevedo L, Neiva R, Sousa C, Fonseca H, Marcão A, Rocha H, Carmona C, Ramos S, Bandeira A, Martins E, Campos T, Rodrigues E, Garcia P, Diogo L, Ferreira AC, Sequeira S, Silva F, Rodrigues L, Gaspar A, Janeiro P, Amorim A, Vilarinho L. Ferreira F, et al. Mol Genet Genomic Med. 2021 Mar;9(3):e1559. doi: 10.1002/mgg3.1559. Epub 2021 Jan 19. Mol Genet Genomic Med. 2021. PMID: 33465300 Free PMC article.
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
Role of RNA in Molecular Diagnosis of MADD Patients.
Nogueira C, Silva L, Marcão A, Sousa C, Fonseca H, Rocha H, Campos T, Teles EL, Rodrigues E, Janeiro P, Gaspar A, Vilarinho L. Nogueira C, et al. Biomedicines. 2021 May 4;9(5):507. doi: 10.3390/biomedicines9050507. Biomedicines. 2021. PMID: 34064479 Free PMC article.
38 results