Genomic copy number variations at 17p13.3 and epileptogenesis

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

Orly Reiner, Romeo Carrozzo, Ying H. Shen et al. · Nature · 1993 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +3

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

Carlos Cardoso, Richard J. Leventer, Heather L. Ward et al. · The American Journal of Human Genetics · 2003 · 283 citations · Full text

Medicine, Genetics, Molecular Genetics +5

Clinical and molecular diagnosis of Miller-Dieker syndrome.

William B. Dobyns, Cynthia J. Curry, H. Eugene Hoyme et al. · PubMed · 1991 · 241 citations

Medicine, Molecular Medicine, Pathobiology +5

Increased LIS1 expression affects human and mouse brain development

Weimin Bi, Tamar Sapir, Oleg A. Shchelochkov et al. · Nature Genetics · 2009 · 220 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +10

Microdeletions including <i>YWHAE</i> in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Sandesh C. Sreenath Nagamani, Feng Zhang, O A Shchelochkov et al. · Journal of Medical Genetics · 2009 · 170 citations

Life Sciences, Genetics, Molecular Genetics +15