(Q84511911)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

review article

1 reference

title

Molecular genetics of long QT syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

1 reference

1

1 reference

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6 February 2020

Kim M Summers

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

John M Baisden

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Dorothy J Radford

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

publication date

9 June 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

6 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

1

1 reference

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6 February 2020

page(s)

1-8

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

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Mutation-specific risk in two genetic forms of type 3 long QT syndrome

7 January 2021

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Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome?

7 January 2021

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The Elusive Link Between LQT3 and Brugada Syndrome

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Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing.

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7 January 2021

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

7 January 2021

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

7 January 2021

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Closer look at genetic testing in long-QT syndrome: will DNA diagnostics ever be enough?

7 January 2021

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Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

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An intronic mutation causes long QT syndrome.

7 January 2021

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How Really Rare Are Rare Diseases?:

7 January 2021

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Mutations atKCNQ1and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing

7 January 2021

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

7 January 2021

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Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Taking the "idio" out of "idiosyncratic": predicting torsades de pointes

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Targeted deletion of Kv4.2 eliminates I(to,f) and results in electrical and molecular remodeling, with no evidence of ventricular hypertrophy or myocardial dysfunction

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

7 January 2021

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Cardiac ankyrins in health and disease

7 January 2021

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

7 January 2021

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Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3

7 January 2021

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

7 January 2021

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

7 January 2021

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Genetics of cardiac repolarization.

7 January 2021

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A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function.

7 January 2021

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Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes

7 January 2021

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A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

7 January 2021

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A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer.

7 January 2021

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7 January 2021

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Imprinting of mouse Kvlqt1 is developmentally regulated.

7 January 2021

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Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

7 January 2021

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7 January 2021

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7 January 2021

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

7 January 2021

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7 January 2021

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

7 January 2021

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Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients

7 January 2021

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

7 January 2021

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Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia

7 January 2021

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Family and population strategies for screening and counselling of inherited cardiac arrhythmias

7 January 2021

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

7 January 2021

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Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutation

7 January 2021

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

7 January 2021

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Ion channels: function unravelled by dysfunction

7 January 2021

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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene

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.YMGME.2010.05.011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20594883%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference