(Q33153847)

22 July 2017

1 reference

title

Congenital long QT syndromes: clinical features, molecular genetics and genetic testing (English)

1 reference

22 July 2017

0 references

Chi-Keong Ching

1

1 reference

22 July 2017

Ene-choo Tan

series ordinal

2

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22 July 2017

publication date

1 May 2006

1 reference

Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

22 July 2017

published in

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22 July 2017

volume

6

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22 July 2017

issue

3

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22 July 2017

page(s)

365-374

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Incidence of cardiac arrest: a neglected factor in evaluating survival rates

22 July 2017

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Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).

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Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome.

21 January 2018

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Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

21 January 2018

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Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome

21 January 2018

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Inherited long QT syndromes: a paradigm for understanding arrhythmogenesis

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21 January 2018

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Clinical and therapeutic aspects of congenital and acquired long QT syndrome

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Risk stratification in the long-QT syndrome.

21 January 2018

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The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome

21 January 2018

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Diagnostic criteria for the long QT syndrome. An update

21 January 2018

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Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome.

21 January 2018

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Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome

21 January 2018

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Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response

21 January 2018

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Electrophysiologic testing in patients with the long QT syndrome

21 January 2018

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21 January 2018

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Sudden cardiac death and inherited arrhythmia syndromes

21 January 2018

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De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

21 January 2018

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Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome

21 January 2018

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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 January 2018

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Molecular basis of the long-QT syndrome associated with deafness

21 January 2018

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Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

21 January 2018

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Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome

21 January 2018

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Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

21 January 2018

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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

21 January 2018

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Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

21 January 2018

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A family of potassium channel genes related to eag in Drosophila and mammals

21 January 2018

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A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

21 January 2018

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An intronic mutation causes long QT syndrome.

21 January 2018

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Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.

21 January 2018

1 reference

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Sudden death associated with short-QT syndrome linked to mutations in HERG.

21 January 2018

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Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

21 January 2018

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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

21 January 2018

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Electrophysiological basis and genetics of Brugada syndrome

21 January 2018

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Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome

21 January 2018

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Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

21 January 2018

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A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

21 January 2018

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A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel

21 January 2018

1 reference

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K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

21 January 2018

1 reference

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MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

21 January 2018

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21 January 2018

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Gene polymorphisms and cardiac arrhythmias

21 January 2018

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Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia

21 January 2018

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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

21 January 2018

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KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

21 January 2018

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Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

21 January 2018

1 reference

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PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

21 January 2018

1 reference

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Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

21 January 2018

1 reference

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Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

21 January 2018

1 reference

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Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women

21 January 2018

1 reference

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KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

The long QT syndrome family of cardiac ion channelopathies: a HuGE review

21 January 2018

1 reference

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The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome

21 January 2018

1 reference

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Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases

21 January 2018

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Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

21 January 2018

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Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping

21 January 2018

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Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing

21 January 2018

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The long QT syndrome: therapeutic implications of a genetic diagnosis

21 January 2018

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Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers.

21 January 2018

1 reference

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Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

The long QT syndromes: genetic basis and clinical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

Compound mutations: a common cause of severe long-QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

25th anniversary of the International Long-QT Syndrome Registry: an ongoing quest to uncover the secrets of long-QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

Electrical alternation of the T-wave: Clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.365

21 January 2018

Identifiers

DOI

10.1586/14737159.6.3.365

1 reference

22 July 2017

1 reference