Publicacións nas que colabora con Pedro Martul Tobío (7)

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

2006

  1. 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

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

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