Listar por autor "Cazón, Laura"

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    • Identification of an Elusive Spliceogenic MYBPC3 Variant in an Otherwise Genotype-Negative Hypertrophic Cardiomyopathy Pedigree 

      Torrado, Mario; Maneiro, Emilia; Mamounier Junior, Arsonval; Fernández-Burriel, Miguel; Sánchez Giralt, Sara; Martínez-Carapeto, Ana; Cazón, Laura; Santiago, Elisa; Ochoa, Juan Pablo; McKenna, William J.; Santomé, Luis; Monserrat, Lorenzo (Nature, 2022-05-04)
      [Abstract] The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. ...

    • 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 ...