Publicaciones en las que colabora con GUIOMAR PÉREZ DE NANCLARES LEAL (15)

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. 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. Genotype-phenotype correlations in children with congenital hyperinsulinism

    HORMONE RESEARCH

  2. Genética del seudohipoparatiroidismo: Bases para el consejo genético

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

  3. 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

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

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

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

    HORMONE RESEARCH

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