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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2006-6-16
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pubmed:abstractText |
Important central nervous system (CNS) manifestations in patients with hereditary hemorrhagic telangiectasia (HHT) include arteriovenous malformations (AVMs) and dural arteriovenous fistulas (DAVFs). Hereditary hemorrhagic telangiectasia is caused by germline mutations of two genes: ENG (HHT Type 1) and ACVRL1 (HHT Type 2). The ENG gene variations have been associated with the formation of intracranial aneurysms. The authors studied whether sequence variations in ACVRL1 or ENG are associated with the development of clinically sporadic arteriovenous dysplasias and aneurysms of the CNS.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0022-3085
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
104
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
945-9
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16776339-Activin Receptors, Type II,
pubmed-meshheading:16776339-Adolescent,
pubmed-meshheading:16776339-Adult,
pubmed-meshheading:16776339-Aged,
pubmed-meshheading:16776339-Antigens, CD,
pubmed-meshheading:16776339-Arteriovenous Malformations,
pubmed-meshheading:16776339-Case-Control Studies,
pubmed-meshheading:16776339-Central Nervous System Vascular Malformations,
pubmed-meshheading:16776339-Child,
pubmed-meshheading:16776339-Female,
pubmed-meshheading:16776339-Humans,
pubmed-meshheading:16776339-Intracranial Aneurysm,
pubmed-meshheading:16776339-Introns,
pubmed-meshheading:16776339-Male,
pubmed-meshheading:16776339-Middle Aged,
pubmed-meshheading:16776339-Polymorphism, Genetic,
pubmed-meshheading:16776339-Receptors, Cell Surface
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pubmed:year |
2006
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pubmed:articleTitle |
Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system.
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pubmed:affiliation |
Neurochirurgische Klinik and Institut für Klinische Biochemie, Universitatskliniken Bonn, Germany. Matthias.Simon@ukb.uni-bonn.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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