José Ramón Bilbao Catalá-rekin lankidetzan egindako argitalpenak (25)

2007

  1. Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4

    Genes and Immunity, Vol. 8, Núm. 2, pp. 171-176

  2. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373

  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. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

    Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713

  5. Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: Comparison of IgG and IgA

    Autoimmunity, Vol. 40, Núm. 2, pp. 117-121

2006

  1. Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease

    Genes and Immunity, Vol. 7, Núm. 7, pp. 550-554

  2. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress

    Journal of Clinical Endocrinology and Metabolism, Vol. 91, Núm. 5, pp. 1832-1841

  3. Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population: Association Study of KIR Gene Contents With Type 1 Diabetes Mellitus

    Human Immunology, Vol. 67, Núm. 1-2, pp. 118-124

  4. No association of TLR2 and TLR4 polymorphisms with type I diabetes mellitus in the Basque population

    Annals of the New York Academy of Sciences

2005

  1. Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus

    Autoimmunity, Vol. 38, Núm. 6, pp. 439-444

2004

  1. No association of INS-VNTR genotype and IAA autoantibodies

    Annals of the New York Academy of Sciences

  2. No evidence of association of CTLA4 polymorphisms with Addison's disease

    Autoimmunity, Vol. 37, Núm. 6-7, pp. 453-456

2003

  1. 5′-Insulin gene VNTR polymorphism is specific for type 1 diabetes: No association with Celiac or Addison's disease

    Annals of the New York Academy of Sciences

  2. A submicroscopic deletion of 11p13 associated with the WAGR syndrome [1]

    Clinical Genetics

  3. HLA-DRB1 and MICA in autoimmunity: Common associated alleles in autoimmune disorders

    Annals of the New York Academy of Sciences

  4. No association of CTLA4 gene with celiac disease in the Basque population

    Journal of Pediatric Gastroenterology and Nutrition, Vol. 37, Núm. 2, pp. 142-145

2002

  1. Contribution of MIC-A polymorphism to type 1 diabetes mellitus in Basques

    Annals of the New York Academy of Sciences

  2. 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. An infrequent double mutation in the MEN1 gene

    Journal of Endocrine Genetics, Vol. 2, Núm. 4, pp. 241-246

  2. Analysis of chromosome 6q in Basque families with type 1 diabetes

    Autoimmunity, Vol. 33, Núm. 1, pp. 33-36