Argitalpenak (114) DIANA VALVERDE PEREZ argitalpenak

2023

  1. Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS)

    Methods in Cell Biology (Academic Press Inc.), pp. 125-137

  2. Genotype-phenotype associations in Alström syndrome: A systematic review and meta-analysis

    Journal of Medical Genetics, Vol. 61, Núm. 1, pp. 18-26

  3. Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes

    Biology Direct, Vol. 18, Núm. 1

  4. 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

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

    Genes, Vol. 14, Núm. 10

  6. 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. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    npj Genomic Medicine, Vol. 7, Núm. 1

  2. An analysis of prognostic factors in a cohort of low-grade gliomas and degree of consistency between RTOG and EORTC scores

    Scientific Reports, Vol. 12, Núm. 1

  3. CPLANE Complex and Ciliopathies

    Biomolecules, Vol. 12, Núm. 6

  4. Common Variation in EDN1 Regulatory Regions Highlights the Role of PPARγ as a Key Regulator of Endothelin in vitro

    Frontiers in Cardiovascular Medicine, Vol. 9

  5. Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

    Frontiers in Molecular Biosciences, Vol. 9

  6. 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

  7. Limited genomic reconstruction of SARS-CoV-2 transmission history within local epidemiological clusters

    Virus Evolution, Vol. 8, Núm. 1

2021

  1. ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

    Frontiers in Cell and Developmental Biology, Vol. 9

  2. Alterations in respiratory function test three months after hospitalisation for covid-19 pneumonia: Value of determining nitric oxide diffusion

    Journal of Clinical Medicine, Vol. 10, Núm. 10

  3. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  4. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

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

    Cells, Vol. 10, Núm. 6

  6. Prevalent alms1 pathogenic variants in spanish alström patients

    Genes, Vol. 12, Núm. 2, pp. 1-12

  7. Spread of a SARS-CoV-2 variant through Europe in the summer of 2020

    Nature, Vol. 595, Núm. 7869, pp. 707-712