Publicaciones en las que colabora con AMAIA VELA DESOJO (20)

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

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

    PLoS ONE, Vol. 10, Núm. 2

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. 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

  2. Heterozygous glucokinase mutations and birth weight in Spanish children

    Diabetic Medicine

  3. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2009

  1. Hipoglucemia por hiperinsulinismo neonatal

    Revista española de pediatría: clínica e investigación, Vol. 65, Núm. 5, pp. 495-508

2008

  1. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients

    Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878

2007

  1. Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain

    Clinical Endocrinology, Vol. 67, Núm. 4, pp. 538-546

  2. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

  3. Virilización en una niña por contacto inadvertido con testosterona tópica

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 54, Núm. 2, pp. 122-124

2002

  1. Molecular analysis of Frasier syndrome: Mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis

    Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1047-1050

2001

  1. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family

    Journal of Pediatric Endocrinology and Metabolism, Vol. 14, Núm. 3, pp. 295-300