Publicaciones en las que colabora con Gustavo Pérez Nanclares (19)

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

  2. Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 63, Núm. 7, pp. 369-371

2015

  1. Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus

    PLoS ONE, Vol. 10, Núm. 2

2013

  1. Aspectos clínicos en dos casos de seudohipoparatiroidismo (ia y ib) y estudio molecular del locus GNAS

    Anales de Pediatria, Vol. 79, Núm. 5, pp. 319-324

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. Familial hypocalciuric hypercalcemia: New mutation in the CASR gene converting valine 697 to methionine

    European Journal of Pediatrics, Vol. 171, Núm. 1, pp. 147-150

  3. 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

2011

  1. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?

    Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1854-1863

  2. Hipercalcemia hipocalciúrica familiar: A propósito de una nueva mutación

    Anales de Pediatria, Vol. 74, Núm. 1, pp. 47-50

2009

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

    European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69

  2. Diabetes neonatal: Defectos genéticos en la función de la célula β pancreática. Enfoque diagnóstico y tratamiento

    Revista Espanola de Pediatria, Vol. 65, Núm. 5, pp. 478-487

  3. Hipoglucemia por hiperinsulinismo neonatal

    Revista Espanola de Pediatria, Vol. 65, Núm. 5, pp. 495-508

  4. Mutations in MAFA and IAPP are not a common cause of monogenic diabetes

    Diabetic Medicine

  5. Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: Choanal atresia leading to misdiagnosis of CHARGE syndrome

    European Journal of Endocrinology, Vol. 160, Núm. 4, pp. 711-717

2008

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

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

  2. New mutation type in pseudohypoparathyroidism type Ia

    Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712

2004

  1. MICA response to gliadin in intestinal mucosa from celiac patients

    Immunogenetics, Vol. 56, Núm. 8, pp. 549-554

2003

  1. A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities

    American Journal of Medical Genetics, Vol. 120 A, Núm. 2, pp. 276-282

2001

  1. Genetic risk factors for thrombosis in a Basque population and their possible contribution to the analysis of a complex disease such as thrombophilia [11]

    Haematologica