Publicaciones en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (19)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. Autosomal dominant polycystic kidney disease in young adults

    Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995

  2. Gut microbial dysbiosis in patients with Cushing’s disease in long-term remission. Relationship with cardiometabolic risk

    Frontiers in Endocrinology, Vol. 14

  3. Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 9, pp. 2193-2202

2022

  1. Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  2. Factors associated with therapeutic response in acromegaly diagnosed in the elderly in Spain

    Frontiers in Endocrinology, Vol. 13

  3. Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study

    European Thyroid Journal, Vol. 11, Núm. 5

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2017

  1. Consensus on the management of advanced radioactive iodine-refractory differentiated thyroid cancer on behalf of the Spanish Society of Endocrinology Thyroid Cancer Working Group (GTSEEN) and Spanish Rare Cancer Working Group (GETHI)

    Clinical and Translational Oncology, Vol. 19, Núm. 3, pp. 279-287

  2. Spanish consensus for the management of patients with anaplastic cell thyroid carcinoma

    Clinical and Translational Oncology, Vol. 19, Núm. 1, pp. 12-20

2016

  1. Consensus on management of advanced medullary thyroid carcinoma on behalf of the Working Group of Thyroid Cancer of the Spanish Society of Endocrinology (SEEN) and the Spanish Task Force Group for Orphan and Infrequent Tumors (GETHI)

    Clinical and Translational Oncology, Vol. 18, Núm. 8, pp. 769-775

  2. El Registro Molecular de Adenomas Hipofisarios (REMAH): una apuesta de futuro de la Endocrinología española por la medicina individualizada y la investigación traslacional

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 63, Núm. 6, pp. 274-284

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

2005

  1. Red Europea de genética de la diabetes tipo 1

    Endocrinologia y Nutricion, Vol. 52, Núm. 4, pp. 177-183

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

2001

  1. Genetic risk factors for thrombosis in a Basque population and their possible contribution to the analysis of a complex disease such as thrombophilia [11]

    Haematologica