Now showing items 1-2 of 2

    • 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 ...
    • Persistent Pulmonary Hypertension in Corrected Valvular Heart Disease: Hemodynamic Insights and Long‐Term Survival 

      Bermejo, Javier; González‐Mansilla, Ana; Mombiela, Teresa; Fernández, Ana I.; Martínez‐Legazpi, Pablo; Yotti, Raquel; García‐Orta, Rocío; Sánchez‐Fernández, Pedro L.; Castaño, Mario; Segovia-Cubero, Javier; Escribano‐Subias, Pilar; San Román, J. Alberto; Borrás, Xavier; Alonso‐Gómez, Angel; Botas, Javier; Crespo-Leiro, María Generosa; Velasco, Sonia; Bayes-Genis, Antoni; López, Amador; Muñoz‐Aguilera, Roberto; Jiménez‐Navarro, Manuel; González‐Juanatey, J.R.; Evangelista, Arturo; Elízaga, Jaime; Martín‐Moreiras, Javier; González‐Santos, José M.; Moreno‐Escobar, Eduardo; Fernández‐Avilés, Francisco (Willey, 2021-01-19)
      [Abstract] Background. The determinants and consequences of pulmonary hypertension after successfully corrected valvular heart disease remain poorly understood. We aim to clarify the hemodynamic bases and risk factors for ...