Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Polymorphic Variants of SCN5A Gene (rs41312433 and rs1805124) Associated with Coronary Artery Affliction in Patients with Severe Arrhythmias.
Vašků A et al.
Genes, 2024
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.
Tse G et al.
Frontiers in Physiology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy.
Dong X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
Bissay V et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.
Lee YS et al.
Korean Circulation Journal, 2016
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Zaragoza MV et al.
Plos One, 2016
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
Mutational analysis of SCN5A gene in long QT syndrome.
Qureshi SF et al.
Meta Gene, 2015
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Millat G et al.
Molecular Diagnosis & Therapy, 2014
Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 2014
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
García-Molina E et al.
Clinical Genetics, 2013
Brugada syndrome in a family with a high mortality rate: a case report.
Barros MA et al.
Journal of Medical Case Reports, 2013
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
Núñez L et al.
Heart Rhythm, 2013
Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block.
Park HS et al.
Genomics & Informatics, 2012
QT Prolongation and Life Threatening Ventricular Tachycardia in a Patient Injected With Intravenous Meperidine (Demerol®).
Song MK et al.
Korean Circulation Journal, 2011
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.
Finsterer J
Pediatric Cardiology, 2009
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
Millat G et al.
Clinical Biochemistry, 2009
Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.
Lehtinen AB et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2009
SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
Shan L et al.
Molecular Genetics and Metabolism, 2008
The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.
Six I et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2008
Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.
Gouas L et al.
European Journal of Human Genetics : Ejhg, 2007
Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
Gouas L et al.
European Journal of Human Genetics : Ejhg, 2005
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
Single nucleotide polymorphism map of five long-QT genes.
Aydin A et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
Paulussen AD et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.
Rangaraju A et al.
Indian Pacing and Electrophysiology Journal, 0