Publicaciones en colaboración con investigadoras/es de Hospital Universitari de Bellvitge (25)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

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

    Frontiers in Endocrinology, Vol. 15

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

    eLife, Vol. 13

2023

  1. 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

  2. Nutrition recommendations for patients with pseudohypoparathyroidism

    Anales de Pediatria

  3. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

  4. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

2022

  1. Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study

    Journal of Endocrinological Investigation

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

    Frontiers in Endocrinology, Vol. 13

2021

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

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

2020

  1. Incidence and regression of metabolic syndrome in a representative sample of the Spanish population: Results of the cohort di@bet.es study

    BMJ Open Diabetes Research and Care, Vol. 8, Núm. 1

2019

  1. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

    Frontiers in Immunology, Vol. 10

  2. 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

2018

  1. Evaluation and Impact of the "advanced Pediatric Life Support" Course in the Care of Pediatric Emergencies in Spain

    Pediatric Emergency Care, Vol. 34, Núm. 9, pp. 628-632

2015

  1. Patterns of somatic uniparental disomy identify novel tumor suppressor genes in colorectal cancer

    Carcinogenesis, Vol. 36, Núm. 10, pp. 1103-1110

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. Evolution of the quality of research in the Spanish society of pediatric emergency medicine (SEUP)

    Emergencias

  3. Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

    Human Mutation, Vol. 34, Núm. 4, pp. 595-602

2011

  1. Cumplimiento de los requisitos de los servicios de urgencias de España: encuesta de autoevaluación

    Anales de Pediatria, Vol. 75, Núm. 2, pp. 115-123