Publicaciones en las que colabora con Guiomar Pérez de Nanclares Leal (12)
2013
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Endocrine profile and phenotype-(Epi)genotype correlation in Spanish patients with pseudohypoparathyroidism
Journal of Clinical Endocrinology and Metabolism, Vol. 98, Núm. 5
2012
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6
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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
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962
2008
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Genética del seudohipoparatiroidismo: Bases para el consejo genético
Endocrinologia y Nutricion, Vol. 55, Núm. 10, pp. 476-483
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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
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Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients
Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878
2007
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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
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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
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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
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An infrequent double mutation in the MEN1 gene
Journal of Endocrine Genetics, Vol. 2, Núm. 4, pp. 241-246
2000
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Excess iron storage in patients with type 2 diabetes unrelated to primary hemochromatosis [5]
New England Journal of Medicine