• Atlas of the clinical genetics of human dilated cardiomyopathy 

      Haas, Jan; Frese, Karen S.; Peil, Barbara; Kloos, Wanda; Keller, Andreas; Nietsch, Rouven; Feng, Zhu; Müller, Sabine; Kayvanpour, Elham; Vogel, Britta; Sedaghat-Hamedani, Farbod; Lim, Wie-Keat; Zhao, Xiaohong; Fradkin, Dmitriy; Köhler, Doreen; Fischer, Simon; Franke, Jennifer; Marquart, Sabine; Barb, Ioana; Li, Daniel Tian; Amr, Ali; Ehlermann, Philipp; Mereles, Derliz; Weis, Tanja; Hassel, Sarah; Kremer, Andreas; King, Vanessa; Wirsz, Emil; Isnard, Richard; Komajda, Michel; Serio, Alessandra; Grasso, Maurizia; Syrris, Petros; Wicks, Eleanor; Plagnol, Vincent; Lopes, Luis; Gadgaard, Tenna; Eiskjaer, Hans; Jorgensen, Mads; García-Giustiniani, Diego; Ortiz-Genga, Martín; Crespo-Leiro, María Generosa; Deprez, Rondal H. Lekanne Dit; Christiaans, Imke; Rijsingen, Ingrid A. van; Wilde, Arthur A.; Waldenstrom, Anders; Bolognesi, Martino; Bellazzi, Riccardo; Mörner, Stellan; Lorenzo Bermejo, Justo; Monserrat, Lorenzo; Villard, Eric; Mogensen, Jens; Pinto, Yigal M.; Charron, Philippe; Elliott, Perry; Arbustini, Eloisa; Katus, Hugo A.; Meder, Benjamin (Oxford para European Society of Cardiology, 2014-08-27)
      [Abstract] Aim. Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM ...
    • 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 ...
    • Risk Predictors in a Spanish Cohort With Cardiac Laminopathies. The REDLAMINA Registry 

      Barriales-Villa, Roberto; Ochoa, Juan Pablo; Larrañaga-Moreira, Jose Maria; Salazar-Mediguchia, Joel; Díez-López, Carles; Restrepo-Córdoba, María Alejandra; Álvarez-Rubio, Jorge; Robles-Mezcua, Ainhoa; Olmo-Conesa, María C.; Nicolás-Rocamora, Elisa; Sanz, Jorge; Villacorta, Eduardo; Gallego-Delgado, María; Yotti, Raquel; Espinosa, María Ángeles; Manovel, Ana; Rincón-Díaz, Luis M.; Jiménez-Jaimez, Juan; Bermúdez-Jiménez, Francisco J.; Basurte-Elorz, M. Teresa; Climent-Payá, Vicente; García-Álvarez, María I.; Rodríguez-Palomares, José Fernando; Limeres-Freire, Javier; Pérez-Guerrero, Ainhoa; Cantero-Pérez, Eva M.; Peña-Peña, Maria Luisa; Palomino-Doza, Julián; Crespo-Leiro, María Generosa; García-Pinilla, José Manuel; Zorio, Esther; Ripoll-Vera, Tomás; García-Pavía, Pablo; Ortiz-Genga, Martín; Monserrat, Lorenzo (Elsevier, 2020-06-29)
      [Abstract] Introduction and objectives. According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ...