(Q21261488)

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A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

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A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death (English)

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hypertrophic cardiomyopathy

1 reference

based on heuristic

inferred from title

author name string

Carolien H Teirlinck

1

author given names

Carolien H

author last names

Teirlinck

1 reference

Dimensions Publication ID

19 August 2022

Faïza Senni

2

author given names

Faïza

author last names

Senni

1 reference

Dimensions Publication ID

19 August 2022

Rajae El Malti

3

author given names

Rajae El

author last names

Malti

1 reference

Dimensions Publication ID

19 August 2022

Danielle Majoor-Krakauer

4

author given names

Danielle

author last names

Majoor-Krakauer

1 reference

Dimensions Publication ID

19 August 2022

Florence Fellmann

5

author given names

Florence

author last names

Fellmann

1 reference

Dimensions Publication ID

19 August 2022

Gilles Millat

6

author given names

Gilles

author last names

Millat

1 reference

Dimensions Publication ID

19 August 2022

Xavier André-Fouët

7

author given names

Xavier

author last names

André-Fouët

1 reference

Dimensions Publication ID

19 August 2022

François Pernot

8

author given names

François

author last names

Pernot

1 reference

Dimensions Publication ID

19 August 2022

Michaël Stumpf

9

author given names

Michaël

author last names

Stumpf

1 reference

Dimensions Publication ID

19 August 2022

Jean Boutarin

10

author given names

Jean

author last names

Boutarin

1 reference

Dimensions Publication ID

19 August 2022

Patrice Bouvagnet

11

author given names

Patrice

author last names

Bouvagnet

1 reference

Dimensions Publication ID

19 August 2022

language of work or name

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publication date

2012

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BMC Medical Genetics

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13

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1

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105

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The cell biology of disease: cellular mechanisms of cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

19 March 2017

Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

19 March 2017

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

12 September 2017

Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

12 September 2017

Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

12 September 2017

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

12 September 2017

Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

Clinical course of hypertrophic cardiomyopathy with survival to advanced age.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

Clinical course of hypertrophic cardiomyopathy in a regional United States cohort

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

Universal fluorescent labeling (UFL) method for automated microsatellite analysis

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-105

21 January 2018

Sarcomeric genotyping in hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

29 November 2018

Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549277

29 November 2018

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/23140321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/23140321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/23140321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

1 reference

https://pubmed.ncbi.nlm.nih.gov/23140321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

1 reference

https://pubmed.ncbi.nlm.nih.gov/23140321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-13-105

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