Listar por autor "Trujillo-Quintero, Juan Pablo"
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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Torrado, Mario; Maneiro, Emilia; Trujillo-Quintero, Juan Pablo; Evangelista, Arturo; Mikhailov, Alexander T.; Monserrat, Lorenzo (Hindawi, 2018)[Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified ... -
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 ...