Publicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (22)

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. 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. 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

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

    Frontiers in Genetics, Vol. 10

  3. 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

  4. 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

  5. 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

2014

  1. Is routine endocrine evaluation necessary after paediatric traumatic brain injury?

    Journal of Endocrinological Investigation, Vol. 37, Núm. 2, pp. 143-148

2013

  1. Urinary iodine and thyroid function in a population of healthy pregnant women in the North of Spain

    Journal of Trace Elements in Medicine and Biology, Vol. 27, Núm. 4, pp. 302-306

2011

  1. Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

    BMC Medical Genetics, Vol. 12

2009

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

    European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69