Publicaciones (48) Publicaciones de AMAIA VELA DESOJO

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

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

  2. 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

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

    PLoS ONE, Vol. 10, Núm. 2

  3. Sección de Endocrinología Pedíatrica: pasado, presente y futuro

    Revista española de pediatría: clínica e investigación, Vol. 71, Núm. 4, pp. 223-230

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

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

  5. 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