Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy

scientific article

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1111/J.1399-0004.2012.01950.X
P3181OpenCitations bibliographic resource ID2514197
P698PubMed publication ID22889254
P5875ResearchGate publication ID230664832

P2093author name stringJ D Roberts
J P van Tintelen
R M Gow
A C P Wiesfeld
D Dooijes
J C Herkert
J Rutberg
M H Gollob
S M Nikkel
P2860cites workArrhythmogenic 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 studyQ28238424
Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyQ28274829
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathyQ34158032
Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paperQ34175202
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 SQ34727600
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromesQ35197101
MLPA and MAPH: new techniques for detection of gene deletionsQ35755758
Methods and strategies for analyzing copy number variation using DNA microarraysQ36863499
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.Q55638651
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES geneQ57200485
Familial Evaluation in Arrhythmogenic Right Ventricular CardiomyopathyQ57901803
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.Q64934138
A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autismQ84231492
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectGap junction protein alpha 1Q2356259
arrhythmogenic right ventricular cardiomyopathyQ2555727
DesmoplakinQ5264821
junction plakoglobinQ21139990
regulation of ventricular cardiac muscle cell action potentialQ22299880
Plakophilin 2Q22683547
P304page(s)452-6
P577publication date2013-05-01
P1433published inClinical GeneticsQ5133760
P1476titleDetection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy
P478volume83

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cites work (P2860)
Q58567899A large familial pathogenic Plakophilin-2 gene () deletion manifesting with sudden cardiac death and lone atrial fibrillation: Evidence for alternating atrial and ventricular phenotypes
Q26753099Arrhythmogenic cardiomyopathy
Q38262612Arrhythmogenic cardiomyopathy: a disease of intercalated discs
Q38268280Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy
Q37493092Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC).
Q45875036Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications
Q38646693Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia
Q28287122Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy
Q58541337PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients
Q34417359Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology.
Q47913364Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.
Q91733059Rare non-coding Desmoglein-2 variant contributes to Arrhythmogenic right ventricular cardiomyopathy
Q57083780Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications
Q33812341Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy

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