Publicaciones en colaboración con investigadores/as de Universidade da Coruña (13)

2022

  1. Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant

    Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250

2021

  1. Clinical utility of genetic testing in patients with dilated cardiomyopathy

    Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495

2020

  1. Prognostic implications of pathogenic truncating variants in the TTN gene

    International Journal of Cardiology, Vol. 316, pp. 180-183

2016

  1. Prognostic role of stress echocardiography in hypertrophic cardiomyopathy: The International Stress Echo Registry

    International Journal of Cardiology, Vol. 219, pp. 331-338

2015

  1. Exercise echocardiography and cardiac magnetic resonance imaging to predict outcome in patients with hypertrophic cardiomyopathy

    European Heart Journal Cardiovascular Imaging, Vol. 16, Núm. 4, pp. 423-432

  2. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

    Heart, Vol. 101, Núm. 13, pp. 1047-1053

2011

  1. Cardiotrophin-1 plasma levels are associated with the severity of hypertrophy in hypertrophic cardiomyopathy

    European Heart Journal, Vol. 32, Núm. 2, pp. 177-183

2010

  1. Disease: Cardiomyopathy, hypertrophic

    Human Genetics

  2. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

    BMC Medical Genetics, Vol. 11, Núm. 1

2009

  1. Mutación en homocigosis en el gen MYBPC3 asociada a fenotipos severos y alto riesgo de muerte súbita en una familia con miocardiopatía hipertrófica

    Revista Espanola de Cardiologia, Vol. 62, Núm. 5, pp. 572-575

2008

  1. Sudden death in a patient with lamin A/C gene mutation and near normal left ventricular systolic function

    International Journal of Cardiology, Vol. 126, Núm. 1, pp. 136-137

2007

  1. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

    European Heart Journal, Vol. 28, Núm. 16, pp. 1953-1961

2005

  1. Mutaciones en el fosfolamban en pacientes con miocardiopatía hipertrófica y miocardiopatiía dilatada idiopática

    Investigacion Cardiovascular, Vol. 8, Núm. 2, pp. 125-134