Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

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A large familial pathogenic Plakophilin-2 gene () deletion manifesting with sudden cardiac death and lone atrial fibrillation: Evidence for alternating atrial and ventricular phenotypes

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Q58567899-C1BFC487-5DD4-47DA-BE33-2F8448B87430

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Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

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Contribution of exome sequenci ...... cular cardiomyopathy/dysplasia

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Contribution of exome sequenci ...... cular cardiomyopathy/dysplasia

@en

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Contribution of exome sequenci ...... cular cardiomyopathy/dysplasia

@en

P1476

Contribution of exome sequenci ...... cular cardiomyopathy/dysplasia

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Boris Keren

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Elodie Surget

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Erwan Donal

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Guillaume Duthoit

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Tiphaine Hery

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Veronique Fressart

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P2860

Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient hearts

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

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

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

Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy

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e0181840

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scholarly article

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10.1371/JOURNAL.PONE.0181840

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English

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Francoise Hidden-Lucet

Joel Fedida

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2017-08-02T00:00:00Z

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28767663

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arrhythmogenic right ventricular cardiomyopathy

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5540585

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Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

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P2860

P2860

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P932