Listar por autor "Fernández, Xusto"
Mostrando ítems 1-3 de 3
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Clinical utility of genetic testing in patients with dilated cardiomyopathy
Peña-Peña, María Luisa; Ochoa, Juan Pablo; Barriales-Villa, Roberto; Cicerchia, Marcos; Palomino-Doza, Julián; Salazar-Mendiguchia, Joel; Lamounier, Arsonval; Trujillo, Juan Pablo; García-Giustiniani, Diego; Fernández, Xusto; Ortiz-Genga, Martín; Monserrat, Lorenzo; Crespo-Leiro, María Generosa (Elsevier, 2021-05)[Abstract] Introduction and objectives: Dilated cardiomyopathy (DCM) is the most frequent cause of heart transplantation. The prevalence of familial disease can reach 50%. Our objective was to describe the genetic basis ... -
Prognostic Implications of Pathogenic Truncating Variants in the TTN Gene
Peña-Peña, Maria Luisa; Ochoa, Juan Pablo; Barriales-Villa, Roberto; Cicerchia, Marcos; Palomino-Doza, Julián; Salazar-Mediguchia, Joel; Lamounier, Arsonval; Trujillo-Quintero, Juan Pablo; García-Giustiniani, Diego; Fernández, Xusto; Ortiz-Genga, Martín; Monserrat, Lorenzo; Crespo-Leiro, María Generosa (Elsevier, 2020-05-01)[Abstract] Introduction and objectives: TTN gene truncating variants (TTNtv) are a frequent cause of dilated cardiomyopathy (DCM). However, there are discrepant data on the associated prognosis. Our objectives were to ... -
Screening Mutations in Myosin Binding Protein C3 Gene in a Cohort of Patients With Hypertrophic Cardiomyopathy
Rodríguez García, María Isabel; Monserrat, Lorenzo; Ortiz, Martín; Fernández, Xusto; Cazón, Laura; Núñez, Lucía; Barriales-Villa, Roberto; Maneiro, Emilia; Veira, Elena; Castro-Beiras, Alfonso; Hermida-Prieto, Manuel (BioMed Central, 2010)[Abstract] Background. MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease ...