Publicacións (21) Publicacións nas que participase algún/ha investigador/a

filter_list Pediatrics

2024

  1. Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy

    Journal of the American Heart Association, Vol. 13, Núm. 21, pp. e036208

2023

  1. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207

  2. Registro español de intervencionismo en cardiopatías congénitas. II informe oficial de la ACI-SEC y el GTH-SECPCC (2021)

    REC: Interventional Cardiology, Vol. 5, Núm. 3, pp. 185-192

2022

  1. Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes

    Journal of medical genetics, Vol. 59, Núm. 8, pp. 768-775

  2. Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 79, Núm. 20, pp. 1986-1997

  3. Registro español de intervencionismo en cardiopatías congénitas.: Primer informe oficial de la ACI-SEC y el GTH-SECPCC (2020)

    REC: Interventional Cardiology, Vol. 4, Núm. 3, pp. 173-180

  4. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

    Circulation. Arrhythmia and electrophysiology, Vol. 15, Núm. 5, pp. e010075

2021

  1. Neonatal repair of a case of obstructive total anomalous pulmonary venous return

    Cirugia Cardiovascular, Vol. 28, Núm. 1, pp. 45-47

  2. Selection of the best of 2020 in congenital heart disease

    REC: CardioClinics, Vol. 56, pp. 15-20

2020

  1. Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

    Journal of the American College of Cardiology, Vol. 76, Núm. 5, pp. 550-559

2019

  1. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 5

  2. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts

    Molecular Genetics and Metabolism, Vol. 126, Núm. 3, pp. 212-223

  3. What is the optimal dose of clopidogrel in pediatric patients?

    Anales de Pediatria, Vol. 90, Núm. 4, pp. 219-223

  4. Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives

    Circulation, Vol. 140, Núm. 3, pp. 184-192

2016

  1. Calmodulin 2 mutation N98S is associated with unexplained cardiac arrest in infants due to low clinical penetrance electrical disorders

    PLoS ONE, Vol. 11, Núm. 4

2012

  1. A family with recurrent sudden death and no clinical clue

    Annals of Noninvasive Electrocardiology, Vol. 17, Núm. 4, pp. 387-393

2011

  1. Genética del síndrome de Marfan

    Cardiocore, Vol. 46, Núm. 3, pp. 101-104

2009

  1. Update on pediatric cardiology and congenital heart disease

    Revista Espanola de Cardiologia, Vol. 62, Núm. SUPPL. 1, pp. 39-52

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

2003

  1. Tratamiento mediante hipotermia de la taquicardia ectópica de la unión tras cirugía cardíaca infantil

    Revista Espanola de Cardiologia, Vol. 56, Núm. 5, pp. 510-514