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Catecholaminergic Polymorphic Ventricular Tachycardia: Multiple Clinical Presentations of a Genetically Determined Disease.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Role of genetic testing in young patients with idiopathic atrioventricular conduction disease.
- Published in:
- 2023
- By:
- Publication type:
- journal article
A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Biventricular Arrhythmogenic Cardiomyopathy Associated with a Novel Heterozygous Plakophilin-2 Early Truncating Variant.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 24, p. 7513, doi. 10.3390/jcm11247513
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- Publication type:
- Article
Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 19, p. 5625, doi. 10.3390/jcm11195625
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- Publication type:
- Article
The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death.
- Published in:
- Cardiology Journal, 2022, v. 29, n. 3, p. 514, doi. 10.5603/CJ.a2021.0157
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- Publication type:
- Article
Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 16, doi. 10.3390/genes13010016
- By:
- Publication type:
- Article
Filamin C missense variant associated with severe right atrial disease and skeletal myopathy.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2021, v. 32, n. 10, p. 2777, doi. 10.1111/jce.15218
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- Publication type:
- Article
Clinical impact of low coverage in whole-exome genetic testing in the assessment of familial arrhythmogenic right ventricular cardiomyopathy: a case report.
- Published in:
- European Heart Journal Case Reports, 2021, v. 5, n. 6, p. 1, doi. 10.1093/ehjcr/ytab111
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- Publication type:
- Article
Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant.
- Published in:
- Cardiology Journal, 2021, v. 28, n. 1, p. 173, doi. 10.5603/CJ.a2020.0099
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- Publication type:
- Article
Familial Arrhythmogenic Cardiomyopathy: Clinical Determinants of Phenotype Discordance and the Impact of Endurance Sports.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3781, doi. 10.3390/jcm9113781
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- Publication type:
- Article
Potenciales efectos pro-arrítmicos de la farmacoterapia contra SARS-CoV-2.
- Published in:
- Archivos de Cardiología de México, 2020, v. 90, p. 36, doi. 10.24875/ACM.M20000061
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- Publication type:
- Article
Outcome of video-assisted thoracoscopic implantation of epicardial left ventricular leads with visual targeting for cardiac resynchronization therapy.
- Published in:
- Interactive Cardiovascular & Thoracic Surgery, 2020, v. 30, n. 3, p. 373, doi. 10.1093/icvts/ivz276
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- Publication type:
- Article
Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.
- Published in:
- International Journal of Legal Medicine, 2019, v. 133, n. 6, p. 1733, doi. 10.1007/s00414-019-02141-x
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- Publication type:
- Article
Molecular and genetic insights into progressive cardiac conduction disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Comparison of lead failure manifestation of Biotronik Linox with St. Jude Medical Riata and Medtronic Sprint Fidelis lead.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.
- Published in:
- Journal of Molecular Medicine, 2018, v. 96, n. 10, p. 993, doi. 10.1007/s00109-018-1685-y
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- Publication type:
- Article
Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results.
- Published in:
- Clinical Research in Cardiology, 2018, v. 107, n. 8, p. 670, doi. 10.1007/s00392-018-1233-3
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- Publication type:
- Article
Late-onset severe long QT syndrome.
- Published in:
- 2018
- By:
- Publication type:
- case study
Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.
- Published in:
- International Journal of Legal Medicine, 2018, v. 132, n. 4, p. 1057, doi. 10.1007/s00414-018-1775-y
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- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy vs. dilated cardiomyopathy: implications for next-generation sequencing and microRNA regulation in appropriate diagnosis-Authors' reply.
- Published in:
- 2018
- By:
- Publication type:
- letter
Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability.
- Published in:
- Frontiers in Physiology, 2018, p. 1, doi. 10.3389/fphys.2018.00177
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- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome.
- Published in:
- European Heart Journal, 2017, v. 38, n. 19, p. 1498, doi. 10.1093/eurheartj/ehx011
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- Publication type:
- Article
Sports-related sudden cardiac deaths in the young population of Switzerland.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
- Published in:
- International Journal of Legal Medicine, 2016, v. 130, n. 4, p. 1011, doi. 10.1007/s00414-016-1317-4
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- Publication type:
- Article
Erratum to: Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
- Published in:
- 2016
- By:
- Publication type:
- Erratum
Gene therapy for cardiovascular diseases and arrhythmia.
- Published in:
- European Heart Journal, 2015, v. 36, n. 40, p. 2676
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- Publication type:
- Article
Muerte súbita cardiaca en el corazón estructuralmente normal: una actualización.
- Published in:
- Archivos de Cardiología de México, 2014, v. 84, n. 4, p. 293, doi. 10.1016/j.acmx.2014.04.002
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- Publication type:
- Article
Loss-of-function mutation of the SCN3B-encoded sodium channel β3 subunit associated with a case of idiopathic ventricular fibrillation.
- Published in:
- Cardiovascular Research, 2010, v. 86, n. 3, p. 392, doi. 10.1093/cvr/cvp417
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- Publication type:
- Article
Genética de la taquicardia ventricular polimorfa catecolaminérgica; conceptos básicos.
- Published in:
- Archivos de Cardiología de México, 2009, v. 79, n. 5, p. 13
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- Publication type:
- Article
Genética en los Síndromes de QT prolongado.
- Published in:
- Archivos de Cardiología de México, 2009, v. 79, n. 5, p. 26
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- Publication type:
- Article
Association of Congenital, Diffuse Electrical Disease in Children with Normal Heart: Sick Sinus Syndrome, Intraventricular Conduction Block, and Monomorphic Ventricular Tachycardia.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2008, v. 19, n. 5, p. 550, doi. 10.1111/j.1540-8167.2007.01006.x
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- Publication type:
- Article
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia
- Published in:
- Cardiovascular Research, 2007, v. 76, n. 3, p. 409, doi. 10.1016/j.cardiores.2007.08.006
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- Publication type:
- Article
Nuevas perspectivas en el síndrome de QT largo.
- Published in:
- Clinical & Translational Investigation / Revista de Investigación Clínica, 2007, v. 59, n. 1, p. 57
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- Publication type:
- Article