Predictive Risk Score for Ventricular Arrhythmias in a Multicenter Cohort of Left Ventricular Arrhythmogenic Cardiomyopathy Patients

Autor: Javier Limeres Freire, MD, Esther Zorio, MD, PhD, Juan Jimenez-Jaimez, MD, PhD, Xabier Arana Achaga, MD, Jose Manuel García Pinilla, MD, PhD, Tomas Ripoll, MD, PhD, Vicente Climent Payá, MD, Pablo García-Pavía, MD, PhD, Carles Díez-López, MD, M Angeles Espinosa, MD, PhD, Rocio Eiros Bachiller, MD, PhD, Roberto Barriales-Villa, MD, PhD, Julian Palomino-Doza, MD, Coloma Tiron de Llano, MD, Maria Luisa Peña Peña, MD, Guillem Casas Masnou, MD, Laura Gutierrez García-Moreno, MD, José F Rodríguez Palomares

Publikováno v: Journal of Cardiovascular Magnetic Resonance, Vol 26, Iss , Pp 100451- (2024)

Externí odkaz: https://doaj.org/article/41444ff4697f4afaa8b3a4c6fd3e202f

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update

Autor: Mireia Alcalde, Rocío Toro, Elena Arbelo, Ferran Picó, Bernat del Olmo, Oscar Campuzano, Laura Lopez, Ana García-Álvarez, Paloma Jordà, Anna Fernandez-Falgueras, Ramon Brugada, Marta Vallverdú-Prats, Georgia Sarquella-Brugada, Simone Grassi, Victoria Fiol, Sergi Cesar, Marta Puigmulé, Josep Brugada, Coloma Tiron de Llano, Alexandra Pérez-Serra, Monica Coll, Carles Ferrer-Costa, Antonio Oliva, Anna Iglesias

Publikováno v: Human Genetics, 2021, vol. undef, num. undef, p. undef
Articles publicats (D-CM)
Sarquella Brugada, Geòrgia Fernández Falgueras, Anna Cesar, Sergi Arbelo, Elena Coll, Monica Perez-Serra, Alexandra Puigmulé, Marta Iglesias, Anna Alcalde Masegu, Mireia Vallverdú-Prats, Marta Fiol, Victoria Ferrer Costa, Carles Olmo, Bernat del Picó, Ferran López, Laura García Álvarez, Ana Jordà, Paloma Tirón de Llano, Coloma Toro, Rocío Grassi, Simone Oliva, Antonio Brugada Terradellas, Josep Brugada, Ramon Campuzano Larrea, Oscar 2021 Clinical impact of rare variants associated with inherited channelopathies: a 5-year update Human Genetics undef undef undef
DUGiDocs – Universitat de Girona
instname
HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

A proper interpretation of the pathogenicity of rare variants is crucial before clinical translation. Ongoing addition of new data may modify previous variant classifications; however, how often a reanalysis is necessary remains undefined. We aimed t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de0ecc3a5e5484647d1900791b1ba22f
http://hdl.handle.net/10256/19962

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

Autor: Victoria Fiol, Josep Brugada, Ana García-Álvarez, Paloma Jordà, Ferran Picó, Anna Iglesias, Georgia Sarquella-Brugada, Mireia Alcalde, Rocío Toro, Marta Puigmulé, Monica Coll, Carles Ferrer-Costa, Anna Fernandez-Falgueras, Alexandra Pérez-Serra, Ramon Brugada, Bernat del Olmo, Antonio Oliva, Oscar Campuzano, Coloma Tiron de Llano, Elena Arbelo, Marta Vallverdú-Prats, Simone Grassi, Sergi Cesar, Laura Lopez

Publikováno v: Journal of Personalized Medicine
Volume 11
Issue 3
Journal of Personalized Medicine, Vol 11, Iss 162, p 162 (2021)
Journal of Personalized Medicine, 2021, vol. 11, núm. 3, p. 162
Articles publicats (D-CM)
Vallverdú-Prats, Marta Alcalde, Mireia Sarquella Brugada, Geòrgia Cesar, Sergi Arbelo, Elena Fernández Falgueras, Anna Coll, Monica Perez-Serra, Alexandra Puigmulé, Marta Iglesias, Anna Fiol, Victoria Ferrer Costa, Carles Olmo, Bernat del Picó, Ferran López, Laura Jordà, Paloma García Álvarez, Ana Tirón, Coloma Toro, Rocío Grassi, Simone Oliva, Antonio Brugada Terradellas, Josep Brugada, Ramon Campuzano Larrea, Oscar 2021 Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later Journal Of Personalized Medicine 11 3 162
DUGiDocs – Universitat de Girona
instname

Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis is necessary remains undefi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96dab64ef4c4389b12e5efd73b442884
https://doi.org/10.3390/jpm11030162