Publicaciones en colaboración con investigadoras/es de Hospital San Pedro (13)

2024

  1. Correction in article by Juzga-Corrales et al. “Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)”, Rev Esp Cardiol. 2023;76:961-969 (Revista Española de Cardiología (English Edition) (2024) 77(4) (358–359), (S1885585724000331), (10.1016/j.rec.2023.12.011))

    Revista Espanola de Cardiologia

2023

  1. Autosomal dominant polycystic kidney disease in young adults

    Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995

  2. Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)

    Revista Espanola de Cardiologia, Vol. 76, Núm. 12, pp. 961-969

2022

  1. Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC

    Molecular Genetics and Genomic Medicine, Vol. 10, Núm. 5

2021

  1. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142

2019

  1. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 11

2018

  1. Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Down syndrome as risk factor for respiratory syncytial virus hospitalization: A prospective multicenter epidemiological study

    Influenza and other Respiratory Viruses, Vol. 11, Núm. 2, pp. 157-164

  2. International variability in gastrointestinal decontamination with acute poisonings

    Pediatrics, Vol. 140, Núm. 2

2015

  1. A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency

    Human Genome Variation, Vol. 2, Núm. 1

  2. A prognostic score to identify low-risk outpatients with acute deep vein thrombosis in the lower limbs

    American Journal of Medicine, Vol. 128, Núm. 1, pp. 90.e9-90.e15

2014

  1. Gorlin syndrome in the paediatric age

    Revista de Neurologia, Vol. 58, Núm. 7, pp. 303-307

2008

  1. Staphylococcus spp. en España: Situación actual y evolución de la resistencia a antimicrobianos (1986-2006)

    Enfermedades Infecciosas y Microbiologia Clinica, Vol. 26, Núm. 5, pp. 269-277