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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
23
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pubmed:dateCreated |
1994-4-19
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pubmed:abstractText |
We review the clinical phenotype, pathological changes, and results of cytogenetic and molecular genetic studies in 90 probands with lissencephaly (smooth brain) with emphasis on patients with the classical form (type I). We also describe the recent discovery of the lissencephaly gene (LIS1), deletions of which have been implicated as the cause of this disorder in many patients.
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pubmed:grant |
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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 |
Dec
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pubmed:issn |
0098-7484
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
270
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pubmed:geneSymbol |
LIS1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2838-42
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pubmed:dateRevised |
2010-3-24
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pubmed:meshHeading |
pubmed-meshheading:7907669-Brain,
pubmed-meshheading:7907669-Brain Diseases,
pubmed-meshheading:7907669-Chromosome Deletion,
pubmed-meshheading:7907669-Chromosome Mapping,
pubmed-meshheading:7907669-Chromosomes, Human, Pair 17,
pubmed-meshheading:7907669-Congenital Abnormalities,
pubmed-meshheading:7907669-DNA,
pubmed-meshheading:7907669-Gene Expression,
pubmed-meshheading:7907669-Humans,
pubmed-meshheading:7907669-In Situ Hybridization, Fluorescence,
pubmed-meshheading:7907669-Neurons,
pubmed-meshheading:7907669-Polymorphism, Restriction Fragment Length
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pubmed:year |
1993
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pubmed:articleTitle |
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
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pubmed:affiliation |
Department of Neurology, University of Minnesota Medical School, Minneapolis.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Review
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