Publications by the researcher in collaboration with Diana Valverde Pérez (16)

2020

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

    Scientific Reports, Vol. 10, Núm. 1

2018

  1. Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves’ disease patients

    Journal of Cellular and Molecular Medicine, Vol. 22, Núm. 3, pp. 1538-1547

  2. Pulmonary arterial hypertension associated to systemic erythematosus lupus: molecular characterization of 3 cases

    Medicina Clinica, Vol. 151, Núm. 3, pp. 111-115

2017

  1. Cribado mutacional en genes relacionados con la hipertensión portopulmonar: análisis de 6 casos

    Medicina Clinica, Vol. 148, Núm. 7, pp. 310-313

  2. Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients

    Journal of Cellular and Molecular Medicine, Vol. 21, Núm. 10, pp. 2268-2275

  3. Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations

    Scientific Reports, Vol. 6

  2. Hipertensión arterial pulmonar asociada a infección por el virus de la inmunodeficiencia humana: análisis de 4 casos

    Medicina Clinica, Vol. 146, Núm. 8, pp. 350-353

  3. Methylation Analysis of the BMPR2 Gene Promoter Region in Patients With Pulmonary Arterial Hypertension

    Archivos de Bronconeumologia, Vol. 52, Núm. 6, pp. 293-298

  4. Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension

    BMC Genetics, Vol. 17, Núm. 1

2015

  1. Estudio clínico y molecular de 4 casos de hipertensión pulmonar asociada a sarcoidosis

    Archivos de Bronconeumologia, Vol. 51, Núm. 4, pp. e19-e21

  2. K198N polymorphism in the EDN1 gene in patients with pulmonary arterial hypertension

    Medicina Clinica, Vol. 144, Núm. 8, pp. 348-352

  3. Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

  4. Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia

    Medicina Clinica, Vol. 144, Núm. 6, pp. 261-264

2014

  1. Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension

    PLoS ONE, Vol. 9, Núm. 6

2011

  1. Perspectiva actual de la genética en la hipertensión arterial pulmonar

    Investigación: cultura, ciencia y tecnología, Núm. 6, pp. 14-18