Publicaciones en colaboración con investigadoras/es de Hospital Universitario Virgen del Rocío (19)

2021

  1. Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas

    European Journal of Endocrinology, Vol. 185, Núm. 4, pp. 485-496

  2. Craniopharyngioma in the Elderly: A Multicenter and Nationwide Study in Spain

    Neuroendocrinology, Vol. 111, Núm. 10, pp. 925-936

2020

  1. Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

    Frontiers in Endocrinology, Vol. 11

2015

  1. RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation

    European Journal of Endocrinology, Vol. 172, Núm. 3, pp. 301-307

2014

  1. Escape and lipodystrophy in acromegaly during pegvisomant therapy, a retrospective multicentre Spanish study

    Clinical Endocrinology, Vol. 81, Núm. 6, pp. 883-890

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

  2. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

    PLoS ONE, Vol. 8, Núm. 9

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. 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

  3. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 7

2011

  1. Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

    BMC Medical Genetics, Vol. 12

  2. Estudio OASIS: Manejo terapéutico de la acromegalia en un escenario de práctica clínica habitual. Evaluación de la eficacia de las diversas estrategias de tratamiento aplicadas

    Endocrinologia y Nutricion, Vol. 58, Núm. 9, pp. 478-486

2010

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

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

  2. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 4, pp. 1876-1888

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

2002

  1. Acromegaly Quality of Life Questionnaire (ACROQOL) a new health-related quality of life questionnaire for patients with acromegaly: Development and psychometric properties

    Clinical Endocrinology, Vol. 57, Núm. 2, pp. 251-258

1995

  1. Factors influencing the immediate and late outcome of Cushing's disease treated by transsphenoidal surgery: A retrospective study by the European Cushing's Disease Survey Group

    Journal of Clinical Endocrinology and Metabolism, Vol. 80, Núm. 11, pp. 3114-3120