Publicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (27)

2024

  1. Association between exposure to air pollution and blood lipids in the general population of Spain

    European Journal of Clinical Investigation, Vol. 54, Núm. 2

  2. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  3. 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

  4. Risk for progression to type 1 diabetes in first-degree relatives under 50 years of age

    Frontiers in Endocrinology, Vol. 15

2023

  1. Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1341-e1346

  2. Gut microbial dysbiosis in patients with Cushing’s disease in long-term remission. Relationship with cardiometabolic risk

    Frontiers in Endocrinology, Vol. 14

  3. Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 9, pp. 2193-2202

  4. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

  5. SHORT syndrome: A good case can break an old acronym

    Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 3, pp. 220-222

2022

  1. Ambient air pollution and thyroid function in Spanish adults. A nationwide population-based study (Di@bet.es study)

    Environmental Health: A Global Access Science Source, Vol. 21, Núm. 1

2021

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

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

  2. Leigh syndrome associated with TRMU gene mutations

    Molecular Genetics and Metabolism Reports, Vol. 26

2020

  1. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

    Frontiers in Neurology, Vol. 11

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. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911

  3. Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

    Frontiers in Genetics, Vol. 10

  4. DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway

    Diabetologia, Vol. 62, Núm. 3, pp. 459-472

  5. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  6. Variable phenotype in HNF1B mutations: Extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

    Clinical Kidney Journal, Vol. 12, Núm. 3, pp. 373-379

2018

  1. GATA4 variants in individuals with a 46,XY Disorder of Sex Development (DSD) may or may not be associated with cardiac defects depending on second hits in other DSD genes

    Frontiers in Endocrinology, Vol. 9, Núm. APR