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Article

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13

15 Dec 1993

Abstract excerpt

OBJECTIVE: 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. DATA SOURCES: We have...

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Identifiers

PMID: 7907669
DOI: 10.1001/jama.270.23.2838

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13PMID 7907669Read ↗

High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosisSemantic proximity Read ↗

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Semantic proximity Read ↗

Causal heterogeneity in isolated lissencephalySemantic proximity Read ↗

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker SyndromeSemantic proximity Read ↗

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.Semantic proximity Read ↗

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.Semantic proximity Read ↗

The genetics of lissencephaly.Semantic proximity Read ↗

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.Semantic proximity Read ↗

Lissencephaly: Expanded imaging and clinical classification.Semantic proximity Read ↗

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.Semantic proximity Read ↗

LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.Semantic proximity Read ↗

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.Semantic proximity Read ↗

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