Browsing by Author "Laura, Vilarinho"
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- Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório finalPublication . Nogueira, Celia; Laura, VilarinhoGoal: We applied NGS to the analysis of whole mtDNA that greatly facilitates the characterization of patients suspicious of mitochondrial diseases in a timely and cost-effective fashion. Therefore, a similar strategy will be developed for nuclear encoded genes as single gene analysis of a short list of nuclear genes requires considerable time, effort and cost.
- Molecular Diagnosis of Mitochondrial Disease with Targeted Next Generation Sequencing: a COhoRT of 250 patientsPublication . Nogueira, Celia; Laura, Vilarinho; Cristina, Pereira; Lisbeth, Silva; Elisa, Leão Teles; Esmeralda, Rodrigues; Teresa, Campos; Esmeralda, Martins; Anabela, Bandeira; Helena, Santos; Patricia, Janeiro; Ana, GasparObjectives: The purpose of our project was to develop a NGS strategy to identify the genetic defects in 250 patients suspicious of mitochondrial disorders, to confirm the clinical and biochemical diagnosis of the disease.