Publicaciones en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (18)

2024

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

    eLife, Vol. 13

2023

  1. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  2. Autosomal dominant polycystic kidney disease in young adults

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

2022

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

    European Thyroid Journal, Vol. 11, Núm. 5

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. E2F1 and E2F2-mediated repression of CPT2 establishes a lipid-rich tumor-promoting environment

    Cancer Research, Vol. 81, Núm. 11, pp. 2874-2887

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  4. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142

  5. Urine phenylacetylglutamine determination in patients with hyperphenylalaninemia

    Journal of Clinical Medicine, Vol. 10, Núm. 16

2017

  1. A morphological method for ammonia detection in liver

    PLoS ONE, Vol. 12, Núm. 3

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

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

2011

  1. 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

2007

  1. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

  2. Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: A meta-analysis

    Tissue Antigens, Vol. 70, Núm. 2, pp. 110-127

  3. 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