Publicaciones en las que colabora con Lorenzo Monserrat Iglesias (32)

2022

  1. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

    Scientific Reports, Vol. 12, Núm. 1

2021

  1. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

    npj Genomic Medicine, Vol. 6, Núm. 1

2020

  1. A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy

    Canadian Journal of Cardiology, Vol. 36, Núm. 9, pp. 1554.e1-1554.e3

  2. Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

    Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 3, pp. E002905

2018

  1. A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

    BioMed Research International, Vol. 2018

2013

  1. Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy

    Circulation Journal, Vol. 77, Núm. 9, pp. 2358-2365

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. Diagnóstico genético en cardiopatías familiares

    Actualización en cardiología (Servicio de Publicaciones)

  2. Disease: Cardiomyopathy, hypertrophic

    Human Genetics

  3. Disease: Cardiomyopathy, hypertrophic

    Human Genetics

  4. Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

    Heart, Vol. 96, Núm. 24, pp. 1980-1984

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

    BMC Medical Genetics, Vol. 11, Núm. 1

  6. The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans

    International Journal of Cardiology, Vol. 145, Núm. 2, pp. 405-407

  7. Trastornos graves de la conducción cardiaca e implante de marcapasos en pacientes con miocardiopatía hipertrófica

    Revista Espanola de Cardiologia, Vol. 63, Núm. 8, pp. 985-988

2009

  1. Miocardiopatía hipertrófica. Estudio del gen de la troponina T en 127 familias españolas

    Revista Espanola de Cardiologia, Vol. 62, Núm. 12, pp. 1473-1477

  2. 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. Apical hypertrophic cardiomyopathy and left ventricular non-compaction: two faces of the same disease

    Heart, Vol. 94, Núm. 10, pp. 1253

  2. Large scale analysis of HCM mutations in sudden cardiac death

    Forensic Science International: Genetics Supplement Series, Vol. 1, Núm. 1, pp. 549-550

  3. Reply

    Journal of the American College of Cardiology

  4. 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