A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy (Q28250468)

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Jan D H Jongbloed

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Maarten P van den Berg

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Jasper J van der Smagt

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Roselie Jongbloed

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Hennie Bikker

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J Peter van Tintelen

Right ventricular dysplasia: a report of 24 adult cases

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language of work or name

English

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publication date

September 2009

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published in

Human Mutation

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volume

30

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issue

9

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page(s)

1278-83

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cites work

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p63-associated disorders.

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A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

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Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis

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A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy

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7 January 2021

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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7 January 2021

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

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Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies

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7 January 2021

Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.

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7 January 2021

Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations

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7 January 2021

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

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7 January 2021

Arrhythmogenic right-ventricular dysplasia/cardiomyopathy

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7 January 2021

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

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7 January 2021

Genetics of arrhythmogenic right ventricular cardiomyopathy

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

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7 January 2021

Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy

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7 January 2021

Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies

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7 January 2021

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

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7 January 2021

Amino acid difference formula to help explain protein evolution

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7 January 2021

Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria

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7 January 2021

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

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7 January 2021

Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations

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7 January 2021

Structural and molecular pathology of the heart in Carvajal syndrome

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7 January 2021

Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)

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7 January 2021

Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy

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7 January 2021

The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14.

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7 January 2021

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review.

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7 January 2021

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

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7 January 2021

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

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7 January 2021

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

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7 January 2021

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

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7 January 2021

Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

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7 January 2021

Predicting deleterious amino acid substitutions

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7 January 2021

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

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7 January 2021

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

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7 January 2021

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

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7 January 2021

A database to support the interpretation of human mismatch repair gene variants

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7 January 2021

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

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7 January 2021

Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

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7 January 2021

Human non-synonymous SNPs: server and survey

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7 January 2021

ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm

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7 January 2021

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

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7 January 2021

Many roads lead to a broken heart: the genetics of dilated cardiomyopathy

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7 January 2021

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

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7 January 2021

Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity

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7 January 2021

A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14.

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7 January 2021

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

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7 January 2021

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2

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7 January 2021

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

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7 January 2021

In silico analysis of missense substitutions using sequence-alignment based methods

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7 January 2021

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

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7 January 2021

Right ventricular cardiomyopathy and sudden death in young people

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7 January 2021

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

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https://api.crossref.org/works/10.1002%2FHUMU.21064

7 January 2021

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21064

7 January 2021

R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21064

7 January 2021

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21064

7 January 2021

Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21064

7 January 2021

Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21064

7 January 2021