Publikationen, an denen er mitarbeitet MARÍA SONIA GAZTAMBIDE SÁENZ (12)

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. 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

2010

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

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

2008

  1. Genética del seudohipoparatiroidismo: Bases para el consejo genético

    Endocrinologia y Nutricion, Vol. 55, Núm. 10, pp. 476-483

  2. Genética del seudohipoparatiroidismo: bases para el consejo genético

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 55, Núm. 10, pp. 476-483

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

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

2007

  1. 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

  2. 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

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

2001

  1. An infrequent double mutation in the MEN1 gene

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

2000

  1. Excess iron storage in patients with type 2 diabetes unrelated to primary hemochromatosis [5]

    New England Journal of Medicine