Publicaciones en colaboración con investigadores/as de Hospital Universitario Reina Sofia (10)

2024

  1. An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response

    Journal of Alzheimer's Disease, Vol. 98, Núm. 2, pp. 601-618

  2. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

2023

  1. Genetic testing in focal segmental glomerulosclerosis: in whom and when?

    Clinical Kidney Journal, Vol. 16, Núm. 11, pp. 2011-2022

2022

  1. Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

    Parkinsonism and Related Disorders, Vol. 94, pp. 67-78

2018

  1. Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

    American Journal of Kidney Diseases, Vol. 72, Núm. 3, pp. 411-418

  2. Role of copy number variants in sudden cardiac death and related diseases: Genetic analysis and translation into clinical practice

    European Journal of Human Genetics, Vol. 26, Núm. 7, pp. 1014-1025

2016

  1. Autosomal recessive polycystic kidney disease diagnosed in a 39 year-old women with kidney failure and cramps

    Nefrologia

2013

  1. Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility

    PLoS ONE, Vol. 8, Núm. 9

2011

  1. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    BMC Medical Genetics, Vol. 12

2010

  1. A strong genetic association between the tumor necrosis factor locus and proliferative vitreoretinopathy: The Retina 4 Project

    Ophthalmology, Vol. 117, Núm. 12