Unidade de investigación
Servicio
Hospital Universitario Virgen de las Nieves
Granada, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario Virgen de las Nieves (14)
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
2023
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A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family
Proceedings of the National Academy of Sciences of the United States of America, Vol. 120
2022
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Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach
Pharmacogenomics Journal, Vol. 22, Núm. 3, pp. 180-187
2021
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Association of Left Ventricular Systolic Dysfunction among Carriers of Truncating Variants in Filamin C with Frequent Ventricular Arrhythmia and End-stage Heart Failure
JAMA Cardiology, Vol. 6, Núm. 8, pp. 891-901
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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
2020
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Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
Journal of the American College of Cardiology, Vol. 75, Núm. 15, pp. 1772-1784
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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Genetic Mosaicism in Calmodulinopathy
Circulation: Genomic and Precision Medicine, Vol. 12, Núm. 9, pp. 375-385
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Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants
Revista Espanola de Cardiologia
2018
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Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2471-2481
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Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia
Circulation, Vol. 137, Núm. 15, pp. 1595-1610
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
2016
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Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
Journal of the American College of Cardiology, Vol. 68, Núm. 22, pp. 2440-2451
2015
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Colorectal cancer classification and cell heterogeneity: A systems oncology approach
International Journal of Molecular Sciences, Vol. 16, Núm. 6, pp. 13610-13632