Publicaciones en colaboración con investigadoras/es de Instituto de Salud Carlos III (36)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

2023

  1. Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value

    Journal of neuropathology and experimental neurology, Vol. 82, Núm. 2, pp. 169-179

2022

  1. Gluten-induced RNA methylation changes regulate intestinal inflammation via allele-specific XPO1 translation in epithelial cells

    Gut, Vol. 71, Núm. 1, pp. 68-77

2021

  1. 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

  2. Fatty liver index as a predictor for type 2 diabetes in subjects with normoglycemia in a nationwide cohort study

    Scientific Reports, Vol. 11, Núm. 1

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

    Scientific Reports, Vol. 11, Núm. 1

  4. Iodine Deficiency and Mortality in Spanish Adults: Di@bet.es Study

    Thyroid, Vol. 31, Núm. 1, pp. 106-114

  5. Thyroid hormone resistance index and mortality in euthyroid subjects: Di@bet.es study

    European journal of endocrinology, Vol. 186, Núm. 1, pp. 95-103

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  2. Incidence and regression of metabolic syndrome in a representative sample of the Spanish population: Results of the cohort di@bet.es study

    BMJ Open Diabetes Research and Care, Vol. 8, Núm. 1

  3. Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study

    Scientific Reports, Vol. 10, Núm. 1

  4. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

2019

  1. Ambient temperature and prevalence of diabetes and insulin resistance in the Spanish population: Di@bet.es study

    European Journal of Endocrinology, Vol. 180, Núm. 5, pp. 275-282

  2. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

    Frontiers in Immunology, Vol. 10

  3. Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

    Anales de Pediatria, Vol. 90, Núm. 2, pp. 125.e1-125.e12

2018

  1. Brachydactyly type C due to a nonsense mutation in the GDF5 gene

    Anales de Pediatria, Vol. 88, Núm. 2, pp. 107-109

  2. Iron deficiency is associated with Hypothyroxinemia and Hypotriiodothyroninemia in the Spanish general adult population: Di@bet.es study

    Scientific Reports, Vol. 8, Núm. 1

2017

  1. Concentrations of urinary arsenic species in relation to rice and seafood consumption among children living in Spain

    Environmental Research, Vol. 159, pp. 69-75

  2. Osteopontin regulates the cross-talk between phosphatidylcholine and cholesterol metabolism in mouse liver

    Journal of Lipid Research, Vol. 58, Núm. 9, pp. 1903-1915

  3. Population-Based National Prevalence of Thyroid Dysfunction in Spain and Associated Factors: Study

    Thyroid, Vol. 27, Núm. 2, pp. 156-166