Publicaciones en las que colabora con GUSTAVO PÉREZ DE NANCLARES LEAL (16)

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. 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