Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (23)

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

  3. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

2022

  1. Consensus guide on prophylactic gonadectomy in different sex development

    Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 8, pp. 629-645

  2. Experience in diagnosis and treatment of prolactinomas in pediatric patients and young adults

    Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 10, pp. 911-913

  3. ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

    Pediatric Diabetes

  4. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

2020

  1. 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

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

    Scientific Reports, Vol. 10, Núm. 1

  3. Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

    PLoS ONE, Vol. 15, Núm. 9 September

  4. Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 7

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

  2. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

    Pediatric Diabetes, Vol. 19, pp. 47-63

  3. Management guidelines for disorders / different sex development (DSD)

    Anales de Pediatria, Vol. 89, Núm. 5, pp. 315.e1-315.e19

2017

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

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

2014

  1. Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome

    Journal of Pediatric Endocrinology and Metabolism, Vol. 27, Núm. 5-6, pp. 561-564

2008

  1. Genotype-phenotype correlations in children with congenital hyperinsulinism

    HORMONE RESEARCH

  2. Monogenic diabetes due to glucokinase mutations: Clinical presentation and molecular genetic testing

    HORMONE RESEARCH

  3. Multiple endocrine neoplasia 2A: Prophylactic intervention

    HORMONE RESEARCH