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11 p, 1022.6 KB Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction / Amor-Salamanca, Almudena (Health in Code SL) ; Santana Rodríguez, Alfredo (Universidad de Las Palmas de Gran Canaria) ; Rasoul, Hazhee (St. Bartholomew's Hospital) ; Rodríguez-Palomares, José F. (Hospital Universitari Vall d'Hebron) ; Moldovan, Oana (Centro Hospitalar Universitário Lisboa Norte) ; Hey, Thomas Morris (Odense University Hospital) ; Gallego-Delgado, María (Instituto de Salud Carlos III) ; Cuenca, David López (Hospital Clínico Universitario Virgen de la Arrixaca) ; de Castro Campos, Daniel (Hospital Universitario Puerta de Hierro) ; Basurte-Elorz, María Teresa (Complejo Hospitalario de Navarra) ; Macías-Ruiz, Rosa (Instituto de Investigación Biosanitaria de Granada) ; Fuentes Cañamero, María Eugenia (Hospital Universitario de Badajoz) ; Galvin, Joseph (University College Dublin School of Medicine) ; Bilbao Quesada, Raquel (Hospital Álvaro Cunqueiro) ; de la Higuera Romero, Luis (Health in Code SL) ; Trujillo-Quintero, Juan Pablo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; García-Cruz, Loida María (Universidad de Las Palmas de Gran Canaria) ; Cárdenas-Reyes, Ivonne (Health in Code SL) ; Jiménez-Jáimez, Juan (Hospital Universitario Virgen de las Nieves) ; García-Hernández, Soledad (Hospital Universitario San Cecilio) ; Valverde-Gómez, María (Hospital Universitario 12 de Octubre) ; Gómez-Díaz, Iria (Health in Code SL) ; Limeres Freire, Javier (Hospital Universitari Vall d'Hebron) ; García-Pinilla, José Manuel (Universidad de Málaga) ; Gimeno-Blanes, Juan R. (Hospital Clínico Universitario Virgen de la Arrixaca) ; Savattis, Konstantinos (Queen Mary University of London) ; García-Pavía, Pablo ($u Centro Nacional de Investigaciones Cardiovasculares Carlos III (Madrid, Espanya)) ; Ochoa, Juan Pablo ($u Centro Nacional de Investigaciones Cardiovasculares Carlos III (Madrid, Espanya)) ; Universitat Autònoma de Barcelona
Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association with left ventricular noncompaction (LVNC) and DCM has been proposed, it is still considered a gene with limited evidence for these phenotypes. [...]
2024 - 10.1161/CIRCGEN.123.004404
Circulation. Genomic and precision medicine, Vol. 17 (february 2024) , p. e004404  
Registre complet - Creative Commons
2.
8 p, 373.5 KB Subtype Specificity of Genetic Loci Associated With Stroke in 16 664 Cases and 32 792 Controls / Traylor, M. (University of Cambridge) ; Anderson, C. D. (Massachusetts General Hospital (Boston)) ; Rutten-Jacobs, L. C. A. (Deutsche Zentrum für Neurodegenerative Erkrankungen) ; Falcone, G. J. (Yale School of Medicine) ; Comeau, Mary E. (Wake Forest University) ; Ay, H. (Massachusetts General Hospital (Boston)) ; Sudlow, C. L. M. (University of Edinburgh) ; Xu, H. (University of Maryland School of Medicine) ; Mitchell, B. D. (University of Maryland School of Medicine) ; Cole, John W. (University of Maryland School of Medicine) ; Rexrode, K. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Jimenez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ; Schmidt, Reinhold (Medizinische Universität Graz) ; Grewal, R. P. (Seton Hall University) ; Sacco, Ralph L. (Miller School of Medicine) ; Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rundek, T. (Miller School of Medicine) ; Rosand, J. (Massachusetts General Hospital (Boston)) ; Dichgans, Martin. (Ludwig-Maximilians-Universität München) ; Lee, J. M. (Washington University School of Medicine) ; Langefeld, Carl D (Wake Forest University) ; Kittner, S. J. (University of Maryland School of Medicine) ; Markus, H. S. (University of Cambridge) ; Woo, D. (University of Cincinnati) ; Malik, R. (Ludwig-Maximilians-Universität München) ; Universitat Autònoma de Barcelona
Background: Genome-wide association studies have identified multiple loci associated with stroke. However, the specific stroke subtypes affected, and whether loci influence both ischemic and hemorrhagic stroke, remains unknown. [...]
2019 - 10.1161/CIRCGEN.118.002338
Circulation. Genomic and precision medicine, Vol. 12 Núm. 7 (january 2019) , p. 307-314  
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