Publicaciones en colaboración con investigadoras/es de Hospital Vall d'Hebron (13)

2021

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

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

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

    PLoS ONE, Vol. 8, Núm. 9

2012

  1. 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

2010

  1. 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

2009

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

    European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69

2006

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX-1 gene mutation

    HORMONE RESEARCH

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

  2. Características de la versión española del cuestionario de calidad de vida QLSM-H en sujetos adultos con deficiencia de hormona de crecimiento tratados con somatotropina. Estudio piloto

    Endocrinologia y Nutricion, Vol. 49, Núm. 4, pp. 105-112

1998

  1. A novel missense (R80W) mutation in 17-β-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism

    European Journal of Endocrinology, Vol. 139, Núm. 3, pp. 330-333