Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes (Q27030767)

Michael J. Ackerman

series ordinal

2

1 reference

language of work or name

1 reference

January 2013

1 reference

published in

Translational Research

1 reference

volume

161

1 reference

issue

1

1 reference

page(s)

1-14

1 reference

Clinical and genetic determinants of torsade de pointes risk

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Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers

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28 September 2017

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High prevalence of genetic variants previously associated with LQT syndrome in new exome data

28 September 2017

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Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation

28 September 2017

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28 September 2017

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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

28 September 2017

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A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

28 September 2017

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A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

28 September 2017

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Genetics of sudden death: focus on inherited channelopathies.

28 September 2017

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The short QT syndrome: proposed diagnostic criteria.

28 September 2017

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28 September 2017

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28 September 2017

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NOS1AP is a genetic modifier of the long-QT syndrome

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Clinical correlates and heritability of QT interval duration in blacks: the Jackson Heart Study.

28 September 2017

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A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis.

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Sodium channel mutations and arrhythmias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

28 September 2017

1 reference

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Common variants at ten loci influence QT interval duration in the QTGEN Study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

High prevalence of four long QT syndrome founder mutations in the Finnish population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

The QT syndromes: long and short

28 September 2017

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The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

28 September 2017

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The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why?

28 September 2017

1 reference

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Polymorphisms within micro-RNA-binding sites and risk of sporadic colorectal cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Allele-specific targeting of microRNAs to HLA-G and risk of asthma

28 September 2017

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Role of spatial dispersion of repolarization in inherited and acquired sudden cardiac death syndromes.

28 September 2017

1 reference

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Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study

28 September 2017

1 reference

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Diagnostic miscues in congenital long-QT syndrome

28 September 2017

1 reference

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Electrocardiographic reference ranges derived from 79,743 ambulatory subjects

28 September 2017

1 reference

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Natural selection on human microRNA binding sites inferred from SNP data

28 September 2017

1 reference

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Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

QT interval is a heritable quantitative trait with evidence of linkage to chromosome 3 in a genome-wide linkage analysis: The Framingham Heart Study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Modulating effects of age and gender on the clinical course of long QT syndrome by genotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Risk stratification in the long-QT syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Two functionally distinct alpha2-adrenergic receptors regulate sympathetic neurotransmission

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

The prognostic value of the QT interval and QT interval dispersion in all-cause and cardiac mortality and morbidity in a population of Danish citizens

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Neural Control of Heart Rate Is an Arrhythmia Risk Modifier in Long QT Syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Potassium channel KCNH2 K897T polymorphism and cardiac repolarization during exercise test: The Finnish Cardiovascular Study

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Common Genetic Variation in KCNH2 Is Associated With QT Interval Duration

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

28 November 2018

1 reference

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Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population

28 November 2018

1 reference

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Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Common Variants in Myocardial Ion Channel Genes Modify the QT Interval in the General Population

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Single nucleotide polymorphism map of five long-QT genes.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias

28 November 2018

1 reference

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Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Prolonged QT interval predicts cardiac and all-cause mortality in the elderly. The Rotterdam Study

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3624763

Low penetrance in the long-QT syndrome: clinical impact

28 November 2018

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Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation

7 January 2021

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KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?

7 January 2021

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The Elusive Link Between LQT3 and Brugada Syndrome

7 January 2021

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Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands

7 January 2021

1 reference

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Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1

7 January 2021

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AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part IV: the ST segment, T and U waves, and the QT interval: a scientific statement from the American Heart Association Electrocardiography and Arrhyth

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2012.08.005

Familial aggregation of QT-interval variability in a general population: results from the NHLBI Family Heart Study

7 January 2021

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QT interval prolongation predicts cardiovascular mortality in an apparently healthy population

7 January 2021

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A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization

7 January 2021

1 reference

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Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

7 January 2021

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How Really Rare Are Rare Diseases?:

7 January 2021

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

7 January 2021

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How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.TRSL.2012.08.005

1 reference

3566388

3566388

1 reference

1 reference

1 reference