2012
DOI: 10.1038/ejhg.2012.82
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Copy number variation in patients with cervical artery dissection

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Cited by 32 publications
(45 citation statements)
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“…In patients with aortic aneurysms and dissections, enrichment of rare copy number variants in similar predefined gene groups has been reported (including enrichment of CNVs in genes associated with smooth muscle cell contraction and in genes associated with cardiovascular diseases) [27]. ) Interestingly, one patient from our pilot study sample [7] carried the 16p duplication that we identified in three additional patients from the current study. Furthermore, one CeAD patient from the current study had a large deletion of this same region.…”
Section: Discussionsupporting
confidence: 68%
See 1 more Smart Citation
“…In patients with aortic aneurysms and dissections, enrichment of rare copy number variants in similar predefined gene groups has been reported (including enrichment of CNVs in genes associated with smooth muscle cell contraction and in genes associated with cardiovascular diseases) [27]. ) Interestingly, one patient from our pilot study sample [7] carried the 16p duplication that we identified in three additional patients from the current study. Furthermore, one CeAD patient from the current study had a large deletion of this same region.…”
Section: Discussionsupporting
confidence: 68%
“…CNV validation was performed in two-steps as described before [7, 16], including visual inspection of each CNV finding in noise-reduced datasets, followed by molecular analysis of a few selected CNVs. For molecular validation by quantitative PCR [19], we randomly selected 10 rare CNVs from the CeAD patients.…”
Section: Methodsmentioning
confidence: 99%
“…The following clinical and imaging characteristics were obtained from the joined CeAD databases as done in prior research [10,13] : age, sex, site of dissection (i.e. internal carotid artery, vertebral artery, internal carotid plus vertebral artery) [11] , type of presenting symptom in 3 groups (stroke, TIA (i.e.…”
Section: Inclusion Criteria and Clinical Data Collectionmentioning
confidence: 99%
“…Noise-free-cnv-filter analysis of the sample (ID 715 nf) suggested that the deletion was true. Subsequent molecular analysis confirmed the finding: the joining segment of the deletion was identified by a case-specific PCR and the breakpoints of the deletion were identified by DNA sequencing following standard procedures [17,26]. Two putative duplications in patients ID 412 were evaluated after noise-free-cnv-filter analysis.…”
Section: Noise Reduction In Copy Number Samplesmentioning
confidence: 94%