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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 |
2008-6-3
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pubmed:abstractText |
LIS1 is the main gene causing classical (isolated) lissencephaly predominating in the posterior brain regions (p>a). However, about 40% of patients with this malformation pattern show no abnormality after fluorescence in situ hybridisation (FISH) analysis of the 17p13.3 region and LIS1 sequencing. To investigate whether alternative gene(s) or genomic deletions/duplications of LIS1 may account for the high percentage of individuals who show no abnormalities on FISH and sequencing, we performed multiplex ligation dependent probe amplification assay (MLPA) in a series of patients.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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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 |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
355-61
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pubmed:meshHeading |
pubmed-meshheading:18285425-1-Alkyl-2-acetylglycerophosphocholine Esterase,
pubmed-meshheading:18285425-Base Sequence,
pubmed-meshheading:18285425-Brain,
pubmed-meshheading:18285425-Child,
pubmed-meshheading:18285425-Child, Preschool,
pubmed-meshheading:18285425-Chromosome Breakage,
pubmed-meshheading:18285425-Chromosomes, Human, Pair 17,
pubmed-meshheading:18285425-DNA Mutational Analysis,
pubmed-meshheading:18285425-Gene Duplication,
pubmed-meshheading:18285425-Genome, Human,
pubmed-meshheading:18285425-Humans,
pubmed-meshheading:18285425-In Situ Hybridization, Fluorescence,
pubmed-meshheading:18285425-Infant,
pubmed-meshheading:18285425-Lissencephaly,
pubmed-meshheading:18285425-Magnetic Resonance Imaging,
pubmed-meshheading:18285425-Microtubule-Associated Proteins,
pubmed-meshheading:18285425-Molecular Sequence Data,
pubmed-meshheading:18285425-Polymerase Chain Reaction,
pubmed-meshheading:18285425-Sequence Deletion
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pubmed:year |
2008
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pubmed:articleTitle |
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
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pubmed:affiliation |
Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer, University of Florence, Florence, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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