Publicaciones en colaboración con investigadores/as de Hospital Ramón y Cajal (7)

2024

  1. Long term outcomes of pituitary adenomas in Multiple Endocrine Neoplasia type 1: a nationwide study

    Frontiers in Endocrinology, Vol. 15

2017

  1. 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

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

2008

  1. New mutation type in pseudohypoparathyroidism type Ia

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

2007

  1. Panhypopituitarism: Genetic versus acquired etiological factors

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

  2. 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