|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2007-2-5
|
|
pubmed:abstractText |
Cerebral cavernous malformations (CCMs) are focal dysmorphic blood vessel anomalies predisposing individuals to hemorrhagic stroke and epilepsy. CCMs are sporadic or inherited as autosomal dominant disease with three known genes. The hypothesis that genetic heterogeneity would account for the remarkable variability in CCM manifestations was tested.
|
|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
1524-4040
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
59
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1278-84; discussion 1284-5
|
|
pubmed:dateRevised |
2009-11-19
|
|
pubmed:meshHeading |
pubmed-meshheading:17277691-Adult,
pubmed-meshheading:17277691-Colorado,
pubmed-meshheading:17277691-DNA Mutational Analysis,
pubmed-meshheading:17277691-Family,
pubmed-meshheading:17277691-Female,
pubmed-meshheading:17277691-Genetic Predisposition to Disease,
pubmed-meshheading:17277691-Genetic Testing,
pubmed-meshheading:17277691-Genotype,
pubmed-meshheading:17277691-Hemangioma, Cavernous, Central Nervous System,
pubmed-meshheading:17277691-Heterozygote,
pubmed-meshheading:17277691-Humans,
pubmed-meshheading:17277691-Male,
pubmed-meshheading:17277691-Microtubule-Associated Proteins,
pubmed-meshheading:17277691-Middle Aged,
pubmed-meshheading:17277691-Polymorphism, Single Nucleotide,
pubmed-meshheading:17277691-Prevalence,
pubmed-meshheading:17277691-Proto-Oncogene Proteins,
pubmed-meshheading:17277691-Risk Assessment,
pubmed-meshheading:17277691-Risk Factors
|
|
pubmed:year |
2006
|
|
pubmed:articleTitle |
Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.
|
|
pubmed:affiliation |
Department of Neurosurgery, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA. Judith.Gault@uchsc.edu
|
|
pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
|
