Associated Papers
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.
Boulmpou A et al.
Journal of Personalized Medicine, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
A method of identifying the high-risk mutations of sudden cardiac death at KCNQ1 and KCNH2 genes.
Wang J et al.
Journal of Forensic and Legal Medicine, 2024
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.
Torrado M et al.
Npj Genomic Medicine, 2021
Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use.
Nagasawa S et al.
Scientific Reports, 2018
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.
Iivonen AP et al.
Endocrine Connections, 2018
Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions.
Mozaffari SV et al.
Plos One, 2018
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Leong IUS et al.
Medical Sciences (basel, Switzerland), 2017
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
Sequence Alterations of I(Ks) Potassium Channel Genes in Kazakhstani Patients with Atrial Fibrillation.
Akilzhanova A et al.
Central Asian Journal of Global Health, 2014
Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.
Liu C et al.
Forensic Science International, 2013
[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].
Zhao QH et al.
Fa Yi Xue Za Zhi, 2012
Detection of genetic variation in KCNQ1 gene by high-resolution melting analysis in a prospective-based series of postmortem negative sudden death: comparison of results obtained in fresh frozen and formalin-fixed paraffin-embedded tissues.
Farrugia A et al.
International Journal of Legal Medicine, 2012
Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
Kothiyal P et al.
Bmc Biotechnology, 2010
Cardiac ion channel gene mutations in Greek long QT syndrome patients.
Kotta CM et al.
Journal of Applied Genetics, 2010
Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.
Chen LY et al.
Heart Asia, 2010
Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.
Zhang Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2008
Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family.
Koo SH et al.
Annals of the Academy of Medicine, Singapore, 2007
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
Miller TE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.
Koo SH et al.
British Journal of Clinical Pharmacology, 2006
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
Single nucleotide polymorphism map of five long-QT genes.
Aydin A et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.
Lai LP et al.
Journal of Human Genetics, 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
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Jongbloed R et al.
Human Mutation, 2002
[A familial case of chronic progressive external ophthalmoplegia associated with mitochondrial disease].
Patte M et al.
Journal Francais D'ophtalmologie, 2001
Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.
Iwasa H et al.
Journal of Human Genetics, 2000
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
Bhuiyan ZA et al.
Progress in Biophysics and Molecular Biology, 0
Abnormal repolarization dynamics in a patient with KCNE1(G38S) who presented with torsades de pointes.
Yamaguchi Y et al.
Journal of Electrocardiology, 0