|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0011703,
umls-concept:C0013331,
umls-concept:C0015576,
umls-concept:C0016441,
umls-concept:C0026882,
umls-concept:C0220908,
umls-concept:C0349788,
umls-concept:C0450254,
umls-concept:C0681842,
umls-concept:C0878544,
umls-concept:C1274040
|
|
pubmed:issue |
23
|
|
pubmed:dateCreated |
2011-6-14
|
|
pubmed:abstractText |
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited disease with incomplete penetrance and variable expression. Causative mutations in genes encoding 5 desmosomal proteins are found in ?50% of ARVD/C index patients. Previous genotype-phenotype relation studies involved mainly overt ARVD/C index patients, so follow-up data on relatives are scarce.
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
1524-4539
|
|
pubmed:author |
pubmed-author:AschmannHH,
pubmed-author:AtsmaDouwe EDE,
pubmed-author:BhuiyanZahir AZA,
pubmed-author:CoxMoniek G P JMG,
pubmed-author:CramerMaarten JMJ,
pubmed-author:DoevendansPieter APA,
pubmed-author:DooijesDennisD,
pubmed-author:HauerRichard N WRN,
pubmed-author:HouwelingArjan CAC,
pubmed-author:JongbloedJan D HJD,
pubmed-author:JordaensLucL,
pubmed-author:NoormanMaartjeM,
pubmed-author:VoldersPaul G APG,
pubmed-author:WiesfeldAns C PAC,
pubmed-author:WildeArthur A MAA,
pubmed-author:de BakkerJacques M TJM,
pubmed-author:van LangenIrene MIM,
pubmed-author:van TintelenJ PeterJP,
pubmed-author:van den WijngaardArthurA,
pubmed-author:van der WerfChristianC,
pubmed-author:van der ZwaagPaul APA
|
|
pubmed:issnType |
Electronic
|
|
pubmed:day |
14
|
|
pubmed:volume |
123
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
2690-700
|
|
pubmed:meshHeading |
pubmed-meshheading:21606396-Adolescent,
pubmed-meshheading:21606396-Adult,
pubmed-meshheading:21606396-Arrhythmogenic Right Ventricular Dysplasia,
pubmed-meshheading:21606396-Asymptomatic Diseases,
pubmed-meshheading:21606396-Death, Sudden, Cardiac,
pubmed-meshheading:21606396-Desmosomes,
pubmed-meshheading:21606396-Family,
pubmed-meshheading:21606396-Female,
pubmed-meshheading:21606396-Follow-Up Studies,
pubmed-meshheading:21606396-Genotype,
pubmed-meshheading:21606396-Humans,
pubmed-meshheading:21606396-Male,
pubmed-meshheading:21606396-Middle Aged,
pubmed-meshheading:21606396-Netherlands,
pubmed-meshheading:21606396-Phenotype,
pubmed-meshheading:21606396-Predictive Value of Tests,
pubmed-meshheading:21606396-Risk Factors,
pubmed-meshheading:21606396-Tachycardia, Ventricular,
pubmed-meshheading:21606396-Ventricular Fibrillation,
pubmed-meshheading:21606396-Young Adult
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
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.
|
|
pubmed:affiliation |
Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands. moniekcox@gmail.com
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
