María José
Brión Martínez
Publicacións (121) Publicacións de María José Brión Martínez
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
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113
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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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Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death
Frontiers in Medicine, Vol. 10
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome
PLoS ONE, Vol. 17, Núm. 3 March
2021
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Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy
Journal of the American College of Cardiology, Vol. 78, Núm. 17, pp. 1682-1699
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Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy
Forensic Science International: Genetics, Vol. 52
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Molecular study of sticky platelet syndrome using exome sequencing
Revista Facultad de Medicina, Vol. 69, Núm. 3
2020
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Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?
Legal Medicine, Vol. 45
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Polygenic risk score as a key factor in cardiovascular clinical prediction models
Revista Espanola de Cardiologia, Vol. 73, Núm. 8, pp. 608-610
2019
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A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death
Revista Espanola de Cardiologia, Vol. 72, Núm. 8, pp. 681-683
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Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths
Forensic Science International: Genetics, Vol. 42, pp. 203-212
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Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation
Forensic Science International: Genetics, Vol. 43
2018
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Innovative Strategies in Heart Failure: Present and Future
Archives of Medical Research, Vol. 49, Núm. 8, pp. 558-567
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Research update for articles published in EJCI in 2016
European Journal of Clinical Investigation, Vol. 48, Núm. 10
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Sudden unexpected death in the young — Value of massive parallel sequencing in postmortem genetic analyses
Forensic Science International, Vol. 293, pp. 70-76
2017
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ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy
Basic and Clinical Pharmacology and Toxicology, Vol. 120, Núm. 5, pp. 466-474
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Medico-legal perspectives on sudden cardiac death in young athletes
International Journal of Legal Medicine, Vol. 131, Núm. 2, pp. 393-409