Publicaciones en las que colabora con Raquel Barrio Castellanos (11)

2017

  1. An Activating Mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis

    Diabetes, Vol. 66, Núm. 4, pp. 1022-1029

  2. Dysmorphic features, frontal cerebral cavernoma, and hyperglycemia in a girl with a De Novo deletion of 7.23 mb in region 7p13-p12.1

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 9, Núm. 4, pp. 355-359

2016

  1. Síndrome de Donohue. Resistencia extrema a la insulina en el periodo neonatal

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 63, Núm. 1, pp. 45-46

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

2010

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

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

2009

  1. Glibenclamide treatment in relapsed transient neonatal diabetes as a result of a KCNJ11 activating mutation (N48D)

    Diabetic Medicine

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

2007

  1. 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

  2. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

  3. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

    Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713