Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)

2023

  1. Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension

    American Journal of Respiratory Cell and Molecular Biology, Vol. 69, Núm. 2, pp. 147-158

  2. Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature

    Genes, Vol. 14, Núm. 10

  3. Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension

    Revista Espanola de Cardiologia, Vol. 76, Núm. 6, pp. 460-467

2022

  1. Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

    International journal of molecular sciences, Vol. 23, Núm. 18

2021

  1. The role of genetics in pulmonary arterial hypertension associated with congenital heart disease

    Revista Espanola de Cardiologia, Vol. 74, Núm. 10, pp. 884-886

2020

  1. Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

    Scientific Reports, Vol. 10, Núm. 1

  2. Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

    PLoS ONE, Vol. 15, Núm. 4

2018

  1. Physical activity levels are low in patients with pulmonary hypertension

    Annals of Translational Medicine, Vol. 6, Núm. 11, pp. 205-205

  2. Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival

    Revista Espanola de Cardiologia, Vol. 71, Núm. 2, pp. 117-118

2016

  1. Análisis de los genes BMPR2, TBX4 y KCNK3 y correlación genotipo-fenotipo en pacientes y familias españolas con hipertensión arterial pulmonar

    Revista Espanola de Cardiologia, Vol. 69, Núm. 11, pp. 1011-1019