A Genome-Wide Investigation of Copy Number Variation in Patients with Sporadic Brain Arteriovenous Malformation
Nasrine Bendjilali; Helen Kim; Shantel Weinsheimer; Diana E. Guo; Pui–Yan Kwok; Jonathan G. Zaroff; Stephen Sidney; Michael T. Lawton · 2013 · PLoS ONE
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract
BACKGROUND: Brain arteriovenous malformations (BAVM) are clusters of abnormal blood vessels, with shunting of blood from the arterial to venous circulation and a high risk of rupture and intracranial hemorrhage. Most BAVMs are sporadic, but also occur in patients with Hereditary Hemorrhagic Telangiectasia, a Mendelian disorder caused by mutations in genes in the transforming growth factor beta (TGFβ) signaling pathway. METHODS: To investigate whether copy number variations (CNVs) contribute to risk of sporadic BAVM, we performed a genome-wide association study in 371 sporadic BAVM cases and 56
Abstract by Nasrine Bendjilali; Helen Kim; Shantel Weinsheimer; Diana E. Guo; Pui–Yan Kwok; Jonathan G. Zaroff; Stephen Sidney; Michael T. Lawton, PLoS ONE (2013) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.1371/journal.pone.0071434