rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
2
|
pubmed:dateCreated |
2011-1-28
|
pubmed:abstractText |
Multiple meningiomas occur in <10% of meningioma patients. Their development may be caused by the presence of a predisposing germline mutation in the neurofibromatosis type 2 (NF2) gene. The predisposing gene in patients with non-NF2 associated multiple meningiomas remains to be identified. Recently, SMARCB1 was reported to be a potential predisposing gene for multiple meningiomas in a family with schwannomatosis and multiple meningiomas. However, involvement of this gene in the development of the meningiomas was not demonstrated.
|
pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Feb
|
pubmed:issn |
1468-6244
|
pubmed:author |
|
pubmed:issnType |
Electronic
|
pubmed:volume |
48
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
93-7
|
pubmed:meshHeading |
pubmed-meshheading:20930055-Base Sequence,
pubmed-meshheading:20930055-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:20930055-DNA Mutational Analysis,
pubmed-meshheading:20930055-DNA Primers,
pubmed-meshheading:20930055-DNA-Binding Proteins,
pubmed-meshheading:20930055-Female,
pubmed-meshheading:20930055-Genes, Neurofibromatosis 2,
pubmed-meshheading:20930055-Genotype,
pubmed-meshheading:20930055-Germ-Line Mutation,
pubmed-meshheading:20930055-Humans,
pubmed-meshheading:20930055-Male,
pubmed-meshheading:20930055-Meningioma,
pubmed-meshheading:20930055-Microsatellite Repeats,
pubmed-meshheading:20930055-Molecular Sequence Data,
pubmed-meshheading:20930055-Mutation, Missense,
pubmed-meshheading:20930055-Pedigree,
pubmed-meshheading:20930055-Transcription Factors
|
pubmed:year |
2011
|
pubmed:articleTitle |
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.
|
pubmed:affiliation |
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
|
pubmed:publicationType |
Journal Article,
Case Reports
|