(Q37070209)

18 August 2017

1 reference

title

Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression (English)

1 reference

hypertrophic cardiomyopathy

18 August 2017

main subject

1 reference

Andre Keren

1 reference

18 August 2017

Petros Syrris

series ordinal

1 reference

18 August 2017

William J McKenna

series ordinal

1 reference

18 August 2017

publication date

29 January 2008

1 reference

Nature Clinical Practice Cardiovascular Medicine

18 August 2017

published in

1 reference

18 August 2017

1 reference

18 August 2017

1 reference

18 August 2017

page(s)

158-168

1 reference

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

18 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Mechanisms of disease: genetic causes of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Sudden death in hypertrophic cardiomyopathy: identification of high risk patients.

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Historical trends in reported survival rates in patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Echocardiographic measurement of right ventricular wall thickness in hypertrophic cardiomyopathy: relation to clinical and prognostic features

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Molecular mechanisms of inherited cardiomyopathies

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Relation between myocyte disarray and outcome in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

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/10.1038%2FNCPCARDIO1110

7 January 2021

The molecular genetic basis for hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

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

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

A mouse model of familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

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/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

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/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Sudden death due to troponin T mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

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/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

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/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Acid maltase deficiency and related myopathies

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Mitochondrial respiratory-chain diseases

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

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/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Gender and aging in a transgenic mouse model of hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Angiotensin-I Converting Enzyme Genotypes and Left Ventricular Hypertrophy in Patients With Hypertrophic Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Phenotypic diversity in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Role of genetic analyses in cardiology: part I: mendelian diseases: cardiac channelopathies

1 reference

https://api.crossref.org/works/10.1038%2FNCPCARDIO1110

7 January 2021

Identifiers

DOI

10.1038/NCPCARDIO1110

1 reference

Dimensions Publication ID

18 August 2017

1047628611

0 references

1 reference