Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease (Q36344118)

13 August 2017

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title

Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease (English)

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hypertrophic cardiomyopathy

13 August 2017

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Philippe Charron

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Michel Komajda

series ordinal

2

object named as

Michel Komajda

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13 August 2017

1 January 2006

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

13 August 2017

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13 August 2017

6

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13 August 2017

1

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13 August 2017

65-78

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Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

13 August 2017

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Cardiomyopathies: from genetics to the prospect of treatment

21 January 2018

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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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Cardiomyopathy: The diagnosis of hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

21 January 2018

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Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history

21 January 2018

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Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration

21 January 2018

1 reference

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Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group

21 January 2018

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Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.

21 January 2018

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Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

New concepts in hypertrophic cardiomyopathies, part I.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

The molecular genetic basis for hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

The genetic basis for cardiac remodeling

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Familial hypertrophic cardiomyopathy: from mutations to functional defects

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Mutations profile in Chinese patients with hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Cardiac myosin binding protein C: its role in physiology and disease

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

A mouse model of familial hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Effects of two hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on Ca2+ regulation of thin filament motility.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

First description of germline mosaicism in familial hypertrophic cardiomyopathy.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Modifier genes for hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Idiopathic hypertrophic cardiomyopathy in identical twins. Morphological heterogeneity of the left ventricle

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Genetic counselling for hypertrophic cardiomyopathy: are we ready for it?

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

To screen or not is not the question--it is when and how to screen

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Psychological consequences of predictive genetic testing: a systematic review

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: implications for multidisciplinary counselling and for genetic education.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

A rational approach to prenatal screening and intervention.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Prenatal testing for Huntington's disease: a European collaborative study.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Amyloid heart disease mimicking hypertrophic cardiomyopathy*

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.1.65

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Genotype–phenotype correlations in familial hypertrophic cardiomyopathy A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

Efficacy of Implantable Cardioverter–Defibrillators for the Prevention of Sudden Death in Patients with Hypertrophic Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.1.65

21 January 2018

Identifiers

DOI

10.1586/14737159.6.1.65

1 reference

13 August 2017

1 reference

PubMed ID

16359268