Publicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)

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

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

2019

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

    Frontiers in Genetics, Vol. 10

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

2008

  1. Genética del seudohipoparatiroidismo: Bases para el consejo genético

    Endocrinologia y Nutricion, Vol. 55, Núm. 10, pp. 476-483

  2. New mutation type in pseudohypoparathyroidism type Ia

    Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712