Investigation unit
Service
Hospital Universitari de Bellvitge
l'Hospitalet de Llobregat, EspañaPublications in collaboration with researchers from Hospital Universitari de Bellvitge (25)
2024
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Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
American Journal of Kidney Diseases
2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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Incidence, diagnosis, and outcome of immune-mediated thrombotic thrombocytopenic purpura: A nationwide survey by the Spanish registry of thrombotic thrombocytopenic purpura
Journal of Clinical Apheresis, Vol. 36, Núm. 4, pp. 563-573
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Predictors of clinically significant quality of life impairment in Parkinson’s disease
npj Parkinson's Disease, Vol. 7, Núm. 1
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Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry
Revista Espanola de Cardiologia, Vol. 74, Núm. 3, pp. 216-224
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Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases
Revista Espanola de Cardiologia, Vol. 74, Núm. 6, pp. 551-553
2020
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Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry
Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 6, pp. E003117
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Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy
Gene, Vol. 746
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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Heart, Vol. 106, Núm. 17, pp. 1342-1348
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The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals
European Journal of Medical Genetics, Vol. 63, Núm. 12
2019
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Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family
Revista Espanola de Cardiologia, Vol. 72, Núm. 4, pp. 324-332
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Multiplex real-time PCR-shortTUB assay for detection of the mycobacterium tuberculosis complex in smear-negative clinical samples with low mycobacterial loads
Journal of Clinical Microbiology, Vol. 57, Núm. 8
2018
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Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results
Revista Clinica Espanola, Vol. 218, Núm. 9, pp. 468-476
2017
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Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study
Journal of Translational Medicine, Vol. 15, Núm. 1
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Biodistribution and immunogenicity of allogeneic mesenchymal stem cells in a rat model of intraarticular chondrocyte xenotransplantation
Frontiers in Immunology, Vol. 8, Núm. NOV
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Quorum sensing network in clinical strains of A. baumannii: AidA is a new quorum quenching enzyme
PLoS ONE, Vol. 12, Núm. 3
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Response to bile salts in clinical strains of Acinetobacter baumannii lacking the adeABC efflux pump: Virulence associated with quorum sensing
Frontiers in Cellular and Infection Microbiology, Vol. 7, Núm. MAY
2015
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Improved prediction of knee osteoarthritis progression by genetic polymorphisms: The Arthrotest Study
Rheumatology (United Kingdom), Vol. 54, Núm. 7, pp. 1236-1243
2013
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Neurogenetics, Vol. 14, Núm. 1, pp. 11-22
2007
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Lack of cross-species transmission of porcine endogenous retrovirus (PERV) to transplant recipients and abattoir workers in contact with pigs
Transplantation, Vol. 84, Núm. 4, pp. 548-550