Publicaciones en colaboración con investigadores/as de Hospital Universitario Central de Asturias (461)

2025

  1. Assessing the association between common functional Nuclear Factor Kappa-b gene polymorphisms (NFKB1, NFKBIZ, NFKBIA) and Alzheimer´s disease

    Behavioural Brain Research, Vol. 476

2024

  1. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

    Kidney International, Vol. 105, Núm. 5, pp. 1058-1076

  2. Benign acute myositis: Aetiology, treatment and evolution. Five-year experience at a tertiary hospital

    Acta Paediatrica, International Journal of Paediatrics, Vol. 113, Núm. 8, pp. 1972-1973

  3. Chromosome-Y haplogroups in Asturias (Northern Spain) and their association with severe COVID-19

    Molecular Genetics and Genomics, Vol. 299, Núm. 1

  4. Erratum to “An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).” Kidney International 2023;105:1058–1076 (Kidney International (2024) 105(5) (1058–1076), (S0085253824000978), (10.1016/j.kint.2024.01.031))

    Kidney International

  5. Identification of host endotypes using peripheral blood transcriptomics in a prospective cohort of patients with endocarditis

    International Journal of Infectious Diseases, Vol. 148

  6. Immunoglobulin genes and severity of COVID-19

    Immunogenetics, Vol. 76, Núm. 3, pp. 213-217

  7. Influence of the HLA-Cw6 Allele and IFIH1/MDA5 Gene Variants on the Cardiometabolic Risk Profile of Patients with Psoriatic Disease

    Journal of Clinical Medicine, Vol. 13, Núm. 3

  8. NFKB1 variants were associated with the risk of Parkinson´s disease in male

    Journal of Neural Transmission, Vol. 131, Núm. 7, pp. 773-779

  9. New challenges in specialized health training related to skills in telemedicine and information and communication technologies

    Educacion Medica

  10. PCSK9 gene variations in the clinical setting of premature cardiovascular disease: A critical appraisal

    International Journal of Cardiology, Vol. 413

  11. Retrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: a reference unit centre experience

    European Journal of Preventive Cardiology, Vol. 31, Núm. 6, pp. e38-e41

  12. Successful treatment with tofacitinib in a child diagnosed with ISG15 deficiency

    Clinical Immunology

  13. Survival analysis and gender differences in hypertrophic cardiomyopathy proband patients referred for genetic testing

    International Journal of Cardiology, Vol. 408

2023

  1. Age-dependent effect of the IFIH1/MDA5 gene variants on the risk of critical COVID-19

    Immunogenetics, Vol. 75, Núm. 2, pp. 91-98

  2. Blocking FGF23 signaling improves the growth plate of mice with X-linked hypophosphatemia

    The Journal of endocrinology, Vol. 259, Núm. 1

  3. Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries

    Frontiers in Endocrinology, Vol. 13

  4. Chromosome Y Haplogroup R Was Associated with the Risk of Premature Myocardial Infarction with ST-Elevation: Data from the CholeSTEMI Registry

    Journal of Clinical Medicine, Vol. 12, Núm. 14

  5. Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia

    Journal of Clinical Medicine, Vol. 12, Núm. 3

  6. Intravenous fluid therapy

    Pediatric Research