Publications en collaboration avec des chercheurs de Hospital de Cruces (34)

2024

  1. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    eBioMedicine, Vol. 99

  2. Increased incidence of pediatric type 1 diabetes during the pandemic in Biscay, Spain

    Endocrinologia, Diabetes y Nutricion, Vol. 71, Núm. 8, pp. 332-339

2023

  1. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

2020

  1. 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. 4

  2. Metabolismo fosfocálcico

    Pediatria Integral, Vol. 24, Núm. 5, pp. 268-275

  3. 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

  4. Variants of STAR, AMH and ZFPM2/FOG2 may contribute towards the broad phenotype observed in 46,XY DSD patients with heterozygous variants of NR5A1

    International Journal of Molecular Sciences, Vol. 21, Núm. 22, pp. 1-18

2019

  1. Controversies in growth hormone treatment in patients with Prader-Willi syndrome

    Acta Pediatrica Espanola, Vol. 77, Núm. 1-2, pp. 6-11

2018

  1. For Debate: Paediatric T1DM: DKA is Still a Problem

    Pediatric endocrinology reviews : PER

2017

  1. Incidence of childhood-onset type 1 diabetes in Biscay, Spain, 1990–2013

    Pediatric Diabetes, Vol. 18, Núm. 1, pp. 71-76

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

2015

  1. Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus

    PLoS ONE, Vol. 10, Núm. 2

  2. Síndrome de Turner: Del nacimiento a la edad adulta

    Endocrinologia y Nutricion, Vol. 62, Núm. 10, pp. 499-506

  3. Síndrome de Turner: del nacimiento a la edad adulta

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 62, Núm. 10, pp. 499-506

2014

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

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

  2. Las alteraciones metabólicas asociadas a la obesidad están ya presentes en los primeros años de vida: Estudio colaborativo español

    Nutricion Hospitalaria, Vol. 30, Núm. 4, pp. 787-793

2013

  1. Absence of diabetes mellitus type 2 in obese children and adolescents in the north of Spain

    Journal of Pediatric Endocrinology and Metabolism, Vol. 26, Núm. 1-2, pp. 25-29

  2. 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

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: Case report

    Journal of Pediatric Endocrinology and Metabolism, Vol. 23, Núm. 8, pp. 827-830