(Q57315175)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12974739%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12974739%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

8 November 2019

main subject

patient

0 references

1 reference

1

1 reference

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8 November 2019

author name string

S Daehmlow

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12974739%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

S Wischke

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12974739%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M Senyuva

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12974739%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

U Werner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12974739%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

J Raible

6

1 reference

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8 November 2019

N Tanis

7

1 reference

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8 November 2019

S Dyachenko

8

1 reference

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8 November 2019

M Hummel

9

1 reference

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8 November 2019

R Hetzer

10

1 reference

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8 November 2019

V Regitz-Zagrosek

11

1 reference

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8 November 2019

publication date

1 October 2003

1 reference

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8 November 2019

1 reference

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8 November 2019

volume

64

1 reference

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8 November 2019

page(s)

339-349

1 reference

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8 November 2019

issue

4

1 reference

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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

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

Results of screening a large group of intercollegiate competitive athletes for cardiovascular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Novel insights into the clinical manifestations and treatment of hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

The molecular genetic basis for hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

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/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Proof of "disease causing" mutation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Disease gene mapping in isolated human populations: the example of Finland

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

Low sequence variation in the gene encoding the human beta-myosin heavy chain.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00151.X

7 January 2021

10.1034/J.1399-0004.2003.00151.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12974739%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference