Associated Papers
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population.
Wang F et al.
Cardiology, 2020
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
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
Nishimura M et al.
Bmc Medical Genetics, 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
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
Investigation of ion channel gene variants in patients with long QT syndrome.
Ernesto C et al.
Arquivos Brasileiros De Cardiologia, 2011
[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].
Li CL et al.
Zhonghua Nei Ke Za Zhi, 2007
[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].
Liu WL et al.
Zhonghua Nei Ke Za Zhi, 2006
Single nucleotide polymorphism map of five long-QT genes.
Aydin A et al.
Journal of Molecular Medicine (berlin, Germany), 2005
[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].
Liu WL et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2005
[The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].
Li P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
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
Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.
Liu W et al.
Chinese Medical Journal, 2003
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Liu W et al.
Human Mutation, 2002
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.
Larsen LA et al.
Clinical Chemistry, 2001