Publicaciones en colaboración con investigadores/as de Hospital Universitario Araba (14)

2023

  1. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

2013

  1. Endocrine profile and phenotype-(Epi)genotype correlation in Spanish patients with pseudohypoparathyroidism

    Journal of Clinical Endocrinology and Metabolism, Vol. 98, Núm. 5

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

  2. Familial hypocalciuric hypercalcemia: New mutation in the CASR gene converting valine 697 to methionine

    European Journal of Pediatrics, Vol. 171, Núm. 1, pp. 147-150

  3. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

2011

  1. Revisiting genome wide association studies (GWAS) in coeliac disease: Replication study in Spanish population and expression analysis of candidate genes

    Journal of Medical Genetics, Vol. 48, Núm. 7, pp. 493-496

2010

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

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

  2. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 4, pp. 1876-1888

2008

  1. Combined Functional and Positional Gene Information for the Identification of Susceptibility Variants in Celiac Disease

    Gastroenterology, Vol. 134, Núm. 3, pp. 738-746

  2. Genotype-phenotype correlations in children with congenital hyperinsulinism

    HORMONE RESEARCH

  3. Monogenic diabetes due to glucokinase mutations: Clinical presentation and molecular genetic testing

    HORMONE RESEARCH

2007

  1. Panhypopituitarism: Genetic versus acquired etiological factors

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

  2. Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease

    Tissue Antigens, Vol. 70, Núm. 6, pp. 495-498

2004

  1. MICA response to gliadin in intestinal mucosa from celiac patients

    Immunogenetics, Vol. 56, Núm. 8, pp. 549-554