Found: 9

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  • LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

    Published in:
    Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1135438
    By:
    • Cesar, Sergi;
    • Coll, Monica;
    • Fiol, Victoria;
    • Fernandez-Falgueras, Anna;
    • Cruzalegui, Jose;
    • Iglesias, Anna;
    • Moll, Isaac;
    • Perez-Serra, Alexandra;
    • Martínez-Barrios, Estefanía;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Puigmulè, Marta;
    • Alcalde, Mireia;
    • Lopez, Laura;
    • Pico, Ferran;
    • Berrueco, Rubén;
    • Brugada, Josep;
    • Zschaeck, Irene;
    • Natera-de Benito, Daniel;
    • Carrera-García, Laura
    Publication type:
    Article

  • Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3807, doi. 10.3390/ijms25073807
    By:
    • Pérez-Serra, Alexandra;
    • Toro, Rocío;
    • Martinez-Barrios, Estefanía;
    • Iglesias, Anna;
    • Fernandez-Falgueras, Anna;
    • Alcalde, Mireia;
    • Coll, Mónica;
    • Puigmulé, Marta;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • Lopez, Laura;
    • Arbelo, Elena;
    • Cesar, Sergi;
    • Llano, Coloma Tiron de;
    • Mangas, Alipio;
    • Brugada, Josep;
    • Sarquella-Brugada, Georgia;
    • Brugada, Ramon;
    • Campuzano, Oscar
    Publication type:
    Article

  • Deporte y síndromes arritmogénicos hereditarios.

    Published in:
    Retos: Nuevas Perspectivas de Educación Física, Deporte y Recreación, 2024, v. 51, p. 719
    By:
    • Sarquella-Brugada, Georgia;
    • Martínez-Barrios, Estefanía;
    • Cesar, Sergi;
    • Arbelo, Elena;
    • Diez, Carles;
    • Campuzano, Oscar
    Publication type:
    Article

  • Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

    Published in:
    2024
    By:
    • Fogaça-da-Mata, Miguel;
    • Martínez-Barrios, Estefanía;
    • Jiménez-Montañés, Lorenzo;
    • Cruzalegui, José;
    • Chipa-Ccasani, Fredy;
    • Greco, Andrea;
    • Cesar, Sergi;
    • Díez-Escuté, Núria;
    • Cerralbo, Patricia;
    • Zschaeck, Irene;
    • Clavero Adell, Marcos;
    • Ayerza-Casas, Ariadna;
    • Palanca-Arias, Daniel;
    • López, Marta;
    • Campuzano, Oscar;
    • Brugada, Josep;
    • Sarquella-Brugada, Georgia
    Publication type:
    Case Study

  • Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5836, doi. 10.3390/ijms25115836
    By:
    • Martínez Olorón, Patricia;
    • Alegría, Iosune;
    • Cesar, Sergi;
    • del Olmo, Bernat;
    • Martínez-Barrios, Estefanía;
    • Carrera-García, Laura;
    • Natera-de Benito, Daniel;
    • Nascimento, Andrés;
    • Campuzano, Oscar;
    • Sarquella-Brugada, Georgia
    Publication type:
    Article

  • Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

    Published in:
    International Journal of Legal Medicine, 2023, v. 137, n. 2, p. 345, doi. 10.1007/s00414-023-02951-0
    By:
    • Martinez-Barrios, Estefanía;
    • Sarquella-Brugada, Georgia;
    • Perez-Serra, Alexandra;
    • Fernandez-Falgueras, Anna;
    • Cesar, Sergi;
    • Alcalde, Mireia;
    • Coll, Mónica;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • Lopez, Laura;
    • Fiol, Victoria;
    • Cruzalegui, José;
    • Hernandez, Clara;
    • Arbelo, Elena;
    • Díez-Escuté, Nuria;
    • Cerralbo, Patricia;
    • Grassi, Simone
    Publication type:
    Article

  • Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

    Published in:
    Biomedicines, 2022, v. 10, n. 1, p. 106, doi. 10.3390/biomedicines10010106
    By:
    • Martínez-Barrios, Estefanía;
    • Cesar, Sergi;
    • Cruzalegui, José;
    • Hernandez, Clara;
    • Arbelo, Elena;
    • Fiol, Victoria;
    • Brugada, Josep;
    • Brugada, Ramon;
    • Campuzano, Oscar;
    • Sarquella-Brugada, Georgia
    Publication type:
    Article

  • Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4406, doi. 10.3390/jcm11154406
    By:
    • Oliva, Antonio;
    • Grassi, Simone;
    • Pinchi, Vilma;
    • Cazzato, Francesca;
    • Coll, Mónica;
    • Alcalde, Mireia;
    • Vallverdú-Prats, Marta;
    • Perez-Serra, Alexandra;
    • Martínez-Barrios, Estefanía;
    • Cesar, Sergi;
    • Iglesias, Anna;
    • Cruzalegui, José;
    • Hernández, Clara;
    • Fiol, Victoria;
    • Arbelo, Elena;
    • Díez-Escuté, Nuria;
    • Arena, Vincenzo;
    • Brugada, Josep;
    • Sarquella-Brugada, Georgia;
    • Brugada, Ramon
    Publication type:
    Article

  • Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.

    Published in:
    Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020241
    By:
    • Martínez-Barrios, Estefanía;
    • Sarquella-Brugada, Georgia;
    • Pérez-Serra, Alexandra;
    • Fernández-Falgueras, Anna;
    • Cesar, Sergi;
    • Coll, Mónica;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Alcalde, Mireia;
    • Vallverdú-Prats, Marta;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • López, Laura;
    • Fiol, Victoria;
    • Cruzalegui, José;
    • Hernández, Clara;
    • Arbelo, Elena;
    • Grassi, Simone;
    • Oliva, Antonio
    Publication type:
    Article