Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

258 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Among authors: bandeira a. Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1. Mitochondrion. 2019. PMID: 30831263
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H, Silva MJ, Florindo C, Sequeira S, Ferreira AC, Duarte S, Rodrigues AL, Janeiro P, Oliveira A, Gomes D, Bandeira A, Martins E, Gomes R, Soares S, Tavares de Almeida I, Vicente JB, Rivera I. Pavlu-Pereira H, et al. Among authors: bandeira a. Orphanet J Rare Dis. 2020 Oct 22;15(1):298. doi: 10.1186/s13023-020-01586-3. Orphanet J Rare Dis. 2020. PMID: 33092611 Free PMC article.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: bandeira a. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
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. Among authors: bandeira a. 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.
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Baldo MS, Nogueira C, Pereira C, Janeiro P, Ferreira S, Lourenço CM, Bandeira A, Martins E, Magalhães M, Rodrigues E, Santos H, Ferreira AC, Vilarinho L. Baldo MS, et al. Among authors: bandeira a. Genes (Basel). 2023 Jul 27;14(8):1536. doi: 10.3390/genes14081536. Genes (Basel). 2023. PMID: 37628588 Free PMC article.
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. Among authors: bandeira a. 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.
Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.
Pena MJ, Pinto A, de Almeida MF, de Sousa Barbosa C, Ramos PC, Rocha S, Guimas A, Ribeiro R, Martins E, Bandeira A, Dias CC, MacDonald A, Borges N, Rocha JC. Pena MJ, et al. Among authors: bandeira a. Orphanet J Rare Dis. 2021 Feb 13;16(1):84. doi: 10.1186/s13023-021-01721-8. Orphanet J Rare Dis. 2021. PMID: 33581730 Free PMC article.
258 results