Publicaciones en colaboración con investigadores/as de Fundación Jiménez Díaz (111)

2023

  1. Comprehensive characterization of a novel, oncogenic and targetable SEPTIN6::ABL2 fusion in T-ALL

    British Journal of Haematology

2022

  1. A Novel PiRNA Enhances CA19-9 Sensitivity for Pancreatic Cancer Identification by Liquid Biopsy

    Journal of Clinical Medicine, Vol. 11, Núm. 24

  2. CRISPR Approaches for the Diagnosis of Human Diseases

    International Journal of Molecular Sciences, Vol. 23, Núm. 3

  3. Development and Characterization of a Factor V‐Deficient CRISPR Cell Model for the Correction of Mutations

    International Journal of Molecular Sciences, Vol. 23, Núm. 10

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. Extracellular Tuning of Mitochondrial Respiration Leads to Aortic Aneurysm

    Circulation, Vol. 143, Núm. 21, pp. 2091-2109

  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

2020

  1. KRAS and BRAF Mutations as Prognostic and Predictive Biomarkers for Standard Chemotherapy Response in Metastatic Colorectal Cancer: A Single Institutional Study

    Cells, Vol. 9, Núm. 1

  2. T cells with dysfunctional mitochondria induce multimorbidity and premature senescence

    Science, Vol. 368, Núm. 6497, pp. 1371-1376

  3. TALEN mediated gene editing in a mouse model of Fanconi anemia

    Scientific Reports, Vol. 10, Núm. 1

2018

  1. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    Genetics in Medicine, Vol. 20, Núm. 8, pp. 882-889

  2. Parathyroid hormone-related protein exhibits antioxidant features in osteoblastic cells through its N-terminal and osteostatin domains

    Bone and Joint Research, Vol. 7, Núm. 1, pp. 58-68

2017

  1. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

    PLoS ONE, Vol. 12, Núm. 2

2016

  1. Preliminary study on non-viral transfection of F9 (factor IX) gene by nucleofection in human adipose-derived mesenchymal stem cells

    PeerJ, Vol. 2016, Núm. 4

2015

  1. Klotho Prevents NFκB Translocation and Protects Endothelial Cell from Senescence Induced by Uremia

    Journals of Gerontology - Series A Biological Sciences and Medical Sciences, Vol. 70, Núm. 10, pp. 1198-1209

  2. Methodology of dietary surveys, studies on nutrition, physical activity and other lifestyles

    Nutricion Hospitalaria, Vol. 31, pp. 9-12

2014

  1. Involvement of LCA5 in leber congenital amaurosis and retinitis pigmentosa in the Spanish population

    Ophthalmology, Vol. 121, Núm. 1, pp. 399-407

2013

  1. A comparative study of immunodepletion and equalization methods for aortic stenosis human plasma

    Methods in Molecular Biology, Vol. 1005, pp. 245-256

  2. Characterization of skeletal alterations in a model of prematurely aging mice

    Age, Vol. 35, Núm. 2, pp. 383-393

  3. High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1