Publikationen, an denen er mitarbeitet AMAIA VELA DESOJO (16)

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

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

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

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

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. Actitud diagnóstica ante hiperglucemias asintomáticas

    Anales de Pediatria

  2. Evaluación clínica del niño obeso

    Revista Espanola de Obesidad, Vol. 5, Núm. 4, pp. 226-235

  3. 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

  4. Pubertad precoz

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 54, Núm. 5, pp. 259-264

  5. 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

2005

  1. Clinical evaluation and health care in childhood and adolescent obesity

    Journal of Pediatric Endocrinology and Metabolism, Vol. 18, Núm. SUPPL. 1, pp. 1207-1213