(Q24607414)

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Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

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scholarly article

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Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test (English)

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long QT syndrome

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based on heuristic

inferred from title

7

object named as

Arthur A M Wilde

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Michael J Ackerman

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object named as

Michael J Ackerman

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author name string

Jamie D Kapplinger

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David J Tester

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Benjamin A Salisbury

3

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Janet L Carr

4

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Carole Harris-Kerr

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Guido D Pollevick

6

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language of work or name

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publication date

September 2009

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6

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9

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1297-303

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Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

Mutation of an A-kinase-anchoring protein causes long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

Genetic basis of Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

Mutations in the hminK gene cause long QT syndrome and suppress lKs function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

7 April 2017

Diagnostic miscues in congenital long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

27 September 2017

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

27 September 2017

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

27 September 2017

Cardiac channelopathies: it's in the genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

30 May 2018

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

28 November 2018

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

28 November 2018

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

28 November 2018

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049907

28 November 2018

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19716085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/19716085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/19716085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/19716085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of clinical phenotype on yield of long QT syndrome genetic testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/19716085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic testing for long QT syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19716085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.HRTHM.2009.05.021

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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