Cardiopatías Familiares e xenética cardiovascular
Hospital Universitari de Bellvitge
l'Hospitalet de Llobregat, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitari de Bellvitge (20)
2024
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Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651
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Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy
JACC: Clinical Electrophysiology, Vol. 10, Núm. 6, pp. 1178-1190
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REALM-DCM: A Phase 3, Multinational, Randomized, Placebo-Controlled Trial of ARRY-371797 in Patients With Symptomatic LMNARelated Dilated Cardiomyopathy
Circulation: Heart Failure, Vol. 17, Núm. 7, pp. e011548
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Vaccine–carditis study: Spanish multicenter registry of inflammatory heart disease after COVID-19 vaccination
Clinical Research in Cardiology, Vol. 113, Núm. 2, pp. 223-234
2023
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Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation
European heart journal. Cardiovascular Imaging, Vol. 25, Núm. 1, pp. 75-85
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Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain
Amyloid, Vol. 30, Núm. 2, pp. 199-207
2022
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Characterization of hereditary transthyretin cardiac amyloidosis in Spain
Revista Espanola de Cardiologia, Vol. 75, Núm. 6, pp. 488-495
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Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant
Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250
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Natural History of MYH7-Related Dilated Cardiomyopathy
Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461
2021
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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
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
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Genetic Etiology for Alcohol-Induced Cardiac Toxicity
Journal of the American College of Cardiology, Vol. 71, Núm. 20, pp. 2293-2302
2017
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Direct oral anticoagulants in patients with hypertrophic cardiomyopathy and atrial fibrillation
International Journal of Cardiology, Vol. 248, pp. 232-238
2015
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Taquicardia fetal: Estudio multicéntrico retrospectivo en 9 hospitales españoles
Acta Pediatrica Espanola, Vol. 73, Núm. 4, pp. 88-95