Publicaciones en colaboración con investigadores/as de Hospital Universitario San Cecilio (10)

2015

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

    PLoS ONE, Vol. 10, Núm. 2

2013

  1. Changes in acromegaly treatment over four decades in Spain: Analysis of the Spanish Acromegaly Registry (REA)

    Pituitary, Vol. 16, Núm. 1, pp. 115-121

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. Results from a national survey on the management of primary hyperparathyroidism

    Journal of Endocrinological Investigation, Vol. 35, Núm. 11, pp. 957-963

2010

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

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

  2. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110

2007

  1. 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

2006

  1. Validity and clinical applicability of the acromegaly quality of life questionnaire, AcroQoL: A 6-month prospective study

    European Journal of Endocrinology, Vol. 155, Núm. 2, pp. 269-277

2004

  1. Epidemiology, clinical characteristics, outcome, morbidity and mortality in acromegaly based on the Spanish Acromegaly Registry (Registro Español de Acromegalia, REA)

    European Journal of Endocrinology, Vol. 151, Núm. 4, pp. 439-446

2003

  1. Deficiencia de la hormona de crecimiento en el adulto: Efectos del tratamiento sustitutivo sobre la composición corporal y la calidad de vida relacionada con la salud

    Medicina Clinica, Vol. 120, Núm. 2, pp. 41-46