Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
Open Access
- 3 December 2008
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 17 (7), 911-918
- https://doi.org/10.1038/ejhg.2008.213
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosisJournal of Medical Genetics, 2008
- Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Human Mutation, 2007
- Partial Deletion of LIS1: A Pitfall in Molecular Diagnosis of Miller-Dieker SyndromePediatric Neurology, 2007
- Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in HumansCell, 2007
- Characterization of Brain Malformations in the Baraitser-Winter Syndrome and Review of the LiteratureNeuropediatrics, 2003
- Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3American Journal of Human Genetics, 2003
- Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesBrain, 2002
- Clinical and molecular basis of classical lissencephaly: Mutations in theLIS1 gene (PAFAH1B1)Human Mutation, 2001
- Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopiaEuropean Journal of Human Genetics, 2001
- Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker SyndromeHuman Molecular Genetics, 1997