相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Genomic copy number variations at 17p13.3 and epileptogenesis
Keiko Shimojima et al.
EPILEPSY RESEARCH (2010)
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
Ravinesh A. Kumar et al.
HUMAN MOLECULAR GENETICS (2010)
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Damien L. Bruno et al.
JOURNAL OF MEDICAL GENETICS (2010)
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
Eden V. Haverfield et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome
L. Roos et al.
JOURNAL OF MEDICAL GENETICS (2009)
Increased LIS1 expression affects human and mouse brain development
Weimin Bi et al.
NATURE GENETICS (2009)
High frequency of genomic deletions -: and a duplication -: in the LIS1 gene in lissencephaly:: implications for molecular diagnosis
D. Mei et al.
JOURNAL OF MEDICAL GENETICS (2008)
LIS1: from cortical malformation to essential protein of cellular dynamics
RJ Leventer et al.
TRENDS IN NEUROSCIENCES (2001)
分享论文
