Related references
Note: Only part of the references are listed.Haplotype sharing test maps genes for familial cardiomyopathies
P. A. van der Zwaag et al.
CLINICAL GENETICS (2011)
Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Proposed Modification of the Task Force Criteria
Frank I. Marcus et al.
CIRCULATION (2010)
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice
Veronique Fressart et al.
EUROPACE (2010)
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia
Barbara Bauce et al.
HEART RHYTHM (2010)
Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
Tianhong Xu et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2010)
Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients Results From a Multicenter Study
Zahurul A. Bhuiyan et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2009)
Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
A. Denise den Haan et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2009)
A Genetic Variants Database for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Paul A. van der Zwaag et al.
HUMAN MUTATION (2009)
A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy.
Angeliki Asimaki et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Toward improvement of diagnostic ECG criteria
Moniek G. P. J. Cox et al.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2008)
A novel dominant mutation in plakoglobin causes Arrhythmogenic right ventricular cardiomyopathy
Angeliki Asimaki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells
Eva M. Oxford et al.
CIRCULATION RESEARCH (2007)
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2
Petros Syrris et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy
Darshan Dalal et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2006)
Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies
Cristina Basso et al.
EUROPEAN HEART JOURNAL (2006)
Suppression of canonical Wnt/β-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy
Eduardo Garcia-Gras et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2
D Dalal et al.
CIRCULATION (2006)
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
JP van Tintelen et al.
CIRCULATION (2006)
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
K Pilichou et al.
CIRCULATION (2006)
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy
P Syrris et al.
CIRCULATION (2006)
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations
B Bauce et al.
EUROPEAN HEART JOURNAL (2005)
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
B Gerull et al.
NATURE GENETICS (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
A Rampazzo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria
MS Hamid et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2002)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
G McKoy et al.
LANCET (2000)
17β-estradiol prevents programmed cell death in cardiac myocytes
T Pelzer et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2000)