Listar por autor "García-Giustiniani, Diego"

Mostrando ítems 1-4 de 4

    • 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 ...

    • Protein Haploinsufficiency Drivers Identify MYBPC3 Variants That Cause Hypertrophic Cardiomyopathy 

      Suay-Corredera, Carmen; Pricolo, María Rosaria; Herrero-Galán, Elías; Velázquez-Carreras, Diana; Sánchez-Ortiz, David; García-Giustiniani, Diego; Delgado, Javier; Galano-Frutos, Juan José; García-Cebollada, Helena; Vilches, Silvia; Domínguez, Fernando; Sabater Molina, María; Barriales-Villa, Roberto; Frisso, Giulia; Sancho, Javier; Serrano, Luis; García-Pavía, Pablo; Monserrat, Lorenzo; Alegre-Cebollada, Jorge (Elsevier, 2021-06-05)
      [Abstract] Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the ...