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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2007-7-31
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pubmed:abstractText |
Lissencephaly is a neuronal migration disorder leading to absent or reduced gyration and a broadened but poorly organized cortex. The most common form of lissencephaly is isolated, referred as classic or type 1 lissencephaly. Type 1 lissencephaly is mostly associated with a heterozygous deletion of the entire LIS1 gene, whereas intragenic heterozygous LIS1 mutations or hemizygous DCX mutations in males are less common.
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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 |
Jul
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:AdèsLL,
pubmed-author:AignerLL,
pubmed-author:BermanYY,
pubmed-author:BogdahnUU,
pubmed-author:BurkartPP,
pubmed-author:BuyseGG,
pubmed-author:DewBB,
pubmed-author:GrossCC,
pubmed-author:HeikMM,
pubmed-author:HellandGG,
pubmed-author:HertzbergCC,
pubmed-author:HolthausenHH,
pubmed-author:JucáM BMB,
pubmed-author:KlapeckiJJ,
pubmed-author:KohlhaseJJ,
pubmed-author:KorenkeG CGC,
pubmed-author:Kortge-JungSS,
pubmed-author:MangoldEE,
pubmed-author:MartinPP,
pubmed-author:MeineckePP,
pubmed-author:MengMM,
pubmed-author:Morris-RosendahlD JDJ,
pubmed-author:MullerDD,
pubmed-author:NeumannT ETE,
pubmed-author:ScharfPP,
pubmed-author:SchreyerII,
pubmed-author:SchuiererGG,
pubmed-author:SchulzeBB,
pubmed-author:SeidelJJ,
pubmed-author:SpaichCC,
pubmed-author:SprangerSS,
pubmed-author:StieglerJJ,
pubmed-author:UyanikGG,
pubmed-author:WinklerJJ,
pubmed-author:WolffGG,
pubmed-author:WrightM LML,
pubmed-author:ZeschnigkCC
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pubmed:issnType |
Electronic
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pubmed:day |
31
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pubmed:volume |
69
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
442-7
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17664403-1-Alkyl-2-acetylglycerophosphocholine Esterase,
pubmed-meshheading:17664403-Adolescent,
pubmed-meshheading:17664403-Adult,
pubmed-meshheading:17664403-Cell Movement,
pubmed-meshheading:17664403-Cerebellum,
pubmed-meshheading:17664403-Cerebral Cortex,
pubmed-meshheading:17664403-Child,
pubmed-meshheading:17664403-Child, Preschool,
pubmed-meshheading:17664403-Choristoma,
pubmed-meshheading:17664403-DNA Mutational Analysis,
pubmed-meshheading:17664403-Female,
pubmed-meshheading:17664403-Genetic Markers,
pubmed-meshheading:17664403-Genetic Predisposition to Disease,
pubmed-meshheading:17664403-Genetic Testing,
pubmed-meshheading:17664403-Genotype,
pubmed-meshheading:17664403-Humans,
pubmed-meshheading:17664403-Infant,
pubmed-meshheading:17664403-Male,
pubmed-meshheading:17664403-Microtubule-Associated Proteins,
pubmed-meshheading:17664403-Mutation,
pubmed-meshheading:17664403-Nervous System Malformations,
pubmed-meshheading:17664403-Penetrance,
pubmed-meshheading:17664403-Phenotype
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pubmed:year |
2007
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pubmed:articleTitle |
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
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pubmed:affiliation |
Department of Neurology, University of Regensburg, Regensburg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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