Publications by the researcher in collaboration with P. Lapunzina (9)

2023

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

    Genes, Vol. 14, Núm. 10

2022

  1. Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature

    Genes, Vol. 13, Núm. 5

  2. First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease

    American Journal of Respiratory and Critical Care Medicine, Vol. 206, Núm. 12, pp. 1522-1533

2021

  1. Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease

    Cells, Vol. 10, Núm. 6

2020

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

    Scientific Reports, Vol. 10, Núm. 1

  2. Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension

    Genes, Vol. 11, Núm. 10, pp. 1-15

2018

  1. 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

2015

  1. A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies

    Clinical Genetics, Vol. 88, Núm. 6, pp. 579-583