Publicaciones en colaboración con investigadoras/es de Instituto de Investigación Sanitaria Biocruces Bizkaia (10)

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. 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

  3. 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. Thyroid hormone resistance from newborns to adults: a Spanish experience

    Journal of Endocrinological Investigation, Vol. 42, Núm. 8, pp. 941-949

2018

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

    Pediatric endocrinology reviews : PER

2017

  1. Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization

    Clinical Endocrinology, Vol. 86, Núm. 6, pp. 778-783

  2. 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. Normal intellectual development in children born from women with hypothyroxinemia during their pregnancy

    Journal of Trace Elements in Medicine and Biology, Vol. 31, pp. 18-24