Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain.

Autor: Fernández Suárez N; Pediatric Cardiology Division, Pediatric Department, 'Marqués de Valdecilla' University Hospital, 39008 Santander, Spain., Viadero Ubierna MT; Pediatric Cardiology Division, Pediatric Department, 'Marqués de Valdecilla' University Hospital, 39008 Santander, Spain., Garde Basas J; Pediatric Cardiology Division, Pediatric Department, 'Marqués de Valdecilla' University Hospital, 39008 Santander, Spain., Onecha de la Fuente ME; Cardiovascular Genetic Disease Division, Molecular Genetic Department, 'Marqués de Valdecilla' University Hospital, 39008 Santander, Spain., Amigo Lanza MT; Pediatric Laboratory, Department of Medical and Surgical Sciences, Faculty of Medicine, University of Cantabria, 39011 Santander, Spain., Martin Gorria G; Familial Heart Disease Division, Cardioloy Department, 'Marqués de Valdecilla' University Hospital, 39008 Santander, Spain., Rivas Pérez A; Familial Heart Disease Division, Cardioloy Department, 'Marqués de Valdecilla' University Hospital, 39008 Santander, Spain., Ruiz Guerrero L; Familial Heart Disease Division, Cardioloy Department, 'Marqués de Valdecilla' University Hospital, 39008 Santander, Spain., González-Lamuño D; Pediatric Laboratory, Department of Medical and Surgical Sciences, Faculty of Medicine, University of Cantabria, 39011 Santander, Spain.; Pediatric Nephrology, Metabolism and Genetic Disease Division, Pediatric Department, 'Marqués de Valdecilla' University Hospital, 39008 Santander, Spain.; Research Institute Valdecilla (IDIVAL), 39011 Santander, Spain.

Publikováno v: Genes [Genes (Basel)] 2023 Mar 30; Vol. 14 (4). Date of Electronic Publication: 2023 Mar 30.

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.

Autor: Abbas, Mohammed Tiseer, Baba Ali, Nima, Farina, Juan M., Mahmoud, Ahmed K., Pereyra, Milagros, Scalia, Isabel G., Kamel, Moaz A., Barry, Timothy, Lester, Steven J., Cannan, Charles R., Mital, Rohit, Wilansky, Susan, Freeman, William K., Chao, Chieh-Ju, Alsidawi, Said, Ayoub, Chadi, Arsanjani, Reza

Publikováno v: Biomedicines; Mar2024, Vol. 12 Issue 3, p682, 19p