14 documents found, page 1 of 2
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein ...
Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo Min; Cardoso, Maria Teresa; Ribeiro, Isaura; Chaves, Paulo; Santos, Juliana Inês; Quelhas, DBackground: Niemann-Pick type C (NPC, MIM #257220) is a neuro-visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the molecular analysis. Methods: We used a Next-Generation Sequencing (NGS)-panel followed by cDNA analysis. Latter, we used massively parallel single-cell RNA-seq (MARS-Seq) to add...
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein ...
Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo Min; Cardoso, Maria Teresa; Ribeiro, Isaura; Chaves, Paulo; Santos, Juliana Inês; Quelhas, DulceBackground: Niemann-Pick type C (NPC, MIM #257220) is a neuro-visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the molecular analysis. Methods: We used a Next-Generation Sequencing (NGS)-panel followed by cDNA analysis. Latter, we used massively parallel single-cell RNA-seq (MARS-Seq) to add...
Targeted next generation sequencing identifies novel pathogenic variants and pr...
Nogueira, Célia; Silva, Lisbeth; Pereira, Cristina; Vieira, Luís; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, PatríciaMitochondrial diseases (MD) are a group of rare inherited disorders, characterized by phenotypic heterogeneity, with hitherto no effective therapeutic options. The aim of this study was to develop a next generation sequencing (NGS) strategy, by using a custom gene panel and whole mitochondrial genome, to identify the disease causing pathogenic variants in 146 patients suspicious of MD. The molecular analysis of...
Newborn screening for homocystinurias: Recent recommendations versus current pr...
Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID,...
Newborn screening for homocystinurias: recent recommendations versus current pr...
Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID,...
Next generation sequencing: a golden tool in mitochondrial diseases
Nogueira, Celia; Pereira, Cristina; Silva, Lisbeth; Vieira, Luis; Leão Teles, Elisa; Campos, Teresa; Rodrigues, Esmeralda; Martins, EsmeraldaThe development of Next Generation Sequencing (NGS) has revolutionized the diagnostic approach of mitochondrial disorders, particularly in children. The purpose of our project is to develop a NGS strategy to identify the genetic defect in 250 patients, to confirm the clinical diagnosis of the disease.
FIND: a importância de um diagnóstico
Gaspar, Paulo; Alves, Sandra; Leão Teles, Elisa; Vilarinho, LauraO Projeto FIND é um estudo de colaboração entre a SDHM da SPP e o INSA e permite disponibilizar uma ferramenta de diagnóstico aos médicos que sigam um doente com suspeita clínica de mucopolissacaridose (MPS).
FIND: a importância de um diagnóstico
Gaspar, Paulo; Alves, Sandra; Leão Teles, Elisa; Vilarinho, LauraO Projeto FIND é um estudo de colaboração entre a Secção de Doenças Hereditárias do Metabolismo da Sociedade Portuguesa de Pediatria e o Instituto Ricardo Jorgea e permite disponibilizar uma ferramenta de diagnóstico aos médicos que sigam um doente com suspeita clínica de mucopolissacaridose (MPS). As MPS são um sub-grupo de DLS, causadas por deficiências em enzimas lisossomais, que catalisam a degradação dos g...
Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis
Nogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; Vieira, Luis; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, TeresaObjectives: The overall aim of our research project was to develop a Next Generation Sequencing strategy to identify nuclear disease causing-mutations in patients suspicious of mitochondrial disorders but without molecular etiology.
Projecto FIND - A importância de um diagnóstico
Gaspar, Paulo; Alves, Sandra; Leão Teles, Elisa; vilarinho, LauraO Projeto FIND é um estudo de colaboração entre a SDHM da SPP e o INSA e permite disponibilizar uma ferramenta de diagnóstico aos médicos que sigam um doente com suspeita clínica de mucopolissacaridose (MPS).