|
Di Donato, Nataliya; Timms, Andrew E; Aldinger, Kimberly A et al. (2018) Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20:1354-1364
|
|
Zaki, Maha; Shehab, Marwa; El-Aleem, Alice Abd et al. (2007) Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A 143A:939-44
|
|
Kholmanskikh, Stanislav S; Koeller, Hajira B; Wynshaw-Boris, Anthony et al. (2006) Calcium-dependent interaction of Lis1 with IQGAP1 and Cdc42 promotes neuronal motility. Nat Neurosci 9:50-7
|
|
Kholmanskikh, Stanislav S; Dobrin, Joseph S; Wynshaw-Boris, Anthony et al. (2003) Disregulated RhoGTPases and actin cytoskeleton contribute to the migration defect in Lis1-deficient neurons. J Neurosci 23:8673-81
|
|
Matsumoto, N; Leventer, R J; Kuc, J A et al. (2001) Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet 9:5-12
|
|
Ross, M E; Swanson, K; Dobyns, W B (2001) Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 32:256-63
|
|
Gleeson, J G; Luo, R F; Grant, P E et al. (2000) Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 47:265-9
|
|
Gleeson, J G; Minnerath, S; Kuzniecky, R I et al. (2000) Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet 67:574-81
|
|
Dobyns, W B; Truwit, C L; Ross, M E et al. (1999) Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 53:270-7
|
|
Sossey-Alaoui, K; Srivastava, A K (1999) DCAMKL1, a brain-specific transmembrane protein on 13q12.3 that is similar to doublecortin (DCX). Genomics 56:121-6
|
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