(Q52962652)

9 May 2018

title

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

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9 May 2018

author

Jeanette Erdmann

1

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9 May 2018

author name string

Raible J

2

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Maki-Abadi J

3

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9 May 2018

Hummel M

4

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Hammann J

5

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9 May 2018

Wollnik B

6

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Frantz E

7

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Fleck E

8

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9 May 2018

Hetzer R

9

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Regitz-Zagrosek V

10

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language of work or name

English

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publication date

1 August 2001

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9 May 2018

Journal of the American College of Cardiology

published in

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9 May 2018

volume

38

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9 May 2018

page(s)

322-330

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9 May 2018

issue

2

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9 May 2018

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

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1 reference

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7 January 2021

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

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

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7 January 2021

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

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7 January 2021

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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An online locus-specific mutation database for familial hypertrophic cardiomyopathy

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Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

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Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy

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Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

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Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy

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7 January 2021

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

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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

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Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia

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7 January 2021

A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy

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Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization

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Comparative hemodynamic, left ventricular functional, and antiadrenergic effects of chronic treatment with metoprolol versus carvedilol in the failing heart

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7 January 2021

Assembly of cardiac C-protein during myofibrillogenesis in myogenic cells in culture.

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7 January 2021

A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy

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7 January 2021

Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein

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7 January 2021

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

1 reference

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7 January 2021

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis

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7 January 2021

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

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7 January 2021

10.1016/S0735-1097(01)01387-0

Identifiers

DOI

1 reference

9 May 2018

PubMed ID

11499719

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9 May 2018