LIS1

Publications

Cardoso C et al. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Hum Mutat. 2002;19(1):4-15. PMID: 11754098.

Cardoso C et al. 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. Am J Hum Genet. 2003;72(4):918-30. PMID: 12621583.

De Vita D et al. Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation. Am J Med Genet A. 2018;176(12):2808-2812. PMID: 30144370.

Di Donato N et al. Lissencephaly: Expanded imaging and clinical classification.Am J Med Genet A. 2017;173(6):1473-1488. PMID: 28440899.

Di Donato N et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018;20(11):1354-1364. PMID: 29671837.

Hirotsune S et al. Graded reduction of PAFAH1B1(LIS1) activity results in neuronal migration defects and early embryonic lethality. Nat Genet. 1998;19(4):333-9. PMID: 9697693.

Mei D et al. High frequency of genomic deletions–and a duplication–in the LIS1 gene in lissencephaly: implications for molecular diagnosis. J Med Genet. 2008;45(6):355-61. PMID: 18285425.

Pilz DT et al. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 1999;8(9):1757-60. PMID: 10441340.

Reiner O et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993;364(6439):717-21. PMID: 8355785.

Sapir T et al. Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit. EMBO J. 1997;16(23):6977-84. PMID: 9384577.

Sicca F et al. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003;61(8):1042-6. PMID: 14581661.

Uyanik G et al. Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology. 2007;69(5):442-7. PMID: 17664403.

Wynshaw-Boris A et al. LIS1 and dynein motor function in neuronal migration and development. Genes Dev. 2001;15(6):639-51. PMID: 11274050.

Yingling J et al. Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division. Cell. 2008;132(3):474-86. PMID: 18267077.