Genetic evaluation of familial cardiomyopathy (Q37766140)

22 August 2017

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title

Genetic evaluation of familial cardiomyopathy (English)

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22 August 2017

Daniel P Judge

1

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PubMed ID

20559909

22 August 2017

Nicole M Johnson

series ordinal

2

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PubMed ID

20559909

22 August 2017

language of work or name

English

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publication date

22 April 2008

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Journal of Cardiovascular Translational Research

22 August 2017

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22 August 2017

1

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22 August 2017

2

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22 August 2017

144-154

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https://scigraph.springernature.com/pub.10.1007/s12265-008-9025-1

22 August 2017

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Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

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Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy

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Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

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Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

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Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells

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Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

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Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

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Enzymatic Defect in Fabry's Disease

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

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Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression

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Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

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

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Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss

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Nonsense-mediated mRNA decay in health and disease

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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

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High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics

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Frequency and phenotypes of familial dilated cardiomyopathy.

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Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy

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Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans

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What is the clinical utility of genetic testing?

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Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy

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Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

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High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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Association of myocardial fibrosis, electrocardiography and ventricular tachyarrhythmia in hypertrophic cardiomyopathy: a delayed contrast enhanced MRI study

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ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

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Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

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Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

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Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

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Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics

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

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Yield of genetic testing in hypertrophic cardiomyopathy.

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Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21

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Primary prevention of sudden death in patients with lamin A/C gene mutations.

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

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12 December 2020

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

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12 December 2020

What role for public health in genetics and vice versa?

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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

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12 December 2020

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy

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12 December 2020

Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.

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12 December 2020

Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy.

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12 December 2020

Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features

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12 December 2020

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia

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12 December 2020

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

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12 December 2020

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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12 December 2020

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

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12 December 2020

Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.

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12 December 2020

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

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12 December 2020

Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

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12 December 2020

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene

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12 December 2020

High incidence of later-onset fabry disease revealed by newborn screening

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12 December 2020

Restrictive Cardiomyopathy, Atrioventricular Block and Mild to Subclinical Myopathy in Patients With Desmin-Immunoreactive Material Deposits

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12 December 2020

Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2

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12 December 2020

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

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12 December 2020

Ethical, legal and social implications of genetic testing

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12 December 2020

Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

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12 December 2020

Remodeling of gap junctions in ischemic and nonischemic forms of heart disease

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12 December 2020

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

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12 December 2020

Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy

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12 December 2020

Familial dilated cardiomyopathy

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12 December 2020

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

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12 December 2020

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

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12 December 2020

The Genetic Basis for Cardiomyopathy

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12 December 2020

10.1007/S12265-008-9025-1

Identifiers

DOI

1 reference

22 August 2017

1 reference

PubMed ID

20559909