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
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.
Sangiorgi E et al.
Genes, 2023
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 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
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
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 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
Cardiac ion channel gene mutations in Greek long QT syndrome patients.
Kotta CM et al.
Journal of Applied Genetics, 2010
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
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
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