Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. (Q54562154)

1 June 2018

title

Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. (English)

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1 June 2018

main subject

cardiovascular disease

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Todd E Miller

1

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1 June 2018

Lijing You

2

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1 June 2018

Robert J Myerburg

3

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1 June 2018

Paul J Benke

4

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1 June 2018

Nanette H Bishopric

5

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1 June 2018

language of work or name

English

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publication date

1 January 2007

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1 June 2018

published in

Genetics in Medicine

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1 June 2018

volume

9

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1 June 2018

issue

1

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1 June 2018

page(s)

23-33

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1 June 2018

Genomics in sudden cardiac death

cites work

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https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Molecular and cellular mechanisms of cardiac arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Clinical and genetic issues in familial dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

The Genetic Basis for Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Two isoforms of the mouse ether-a-go-go-related gene coassemble to form channels with properties similar to the rapidly activating component of the cardiac delayed rectifier K+ current

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Point mutations in the dystrophin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Individuality and variation in gene expression patterns in human blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Alternative splicing: a ubiquitous mechanism for the generation of multiple protein isoforms from single genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Phenotypic diversity in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Risk stratification in the long-QT syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Cardiac repolarization: current knowledge, critical gaps, and new approaches to drug development and patient management

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

What is the clinical utility of genetic testing?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

Whole blood and leukocyte RNA isolation for gene expression analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D74DE

10.1097/GIM.0B013E31802D74DE

21 January 2018

Identifiers

DOI

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1 June 2018

Dimensions Publication ID

1004654914

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1 June 2018