Refinement of a 400-kb critical region allows genotypic differentiation between isolated issencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
Cardoso C., Leventer RJ, Ward HL, et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated issencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 ; 72: 918-930.
14-3-3ε is important for neuronal migration by binding to NUDEL: A molecular explanation for Miller-Dieker syndrome
Toyo-oka K., Shionoya A., Gambello MJ, et al. 14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 ; 34: 274-285.
Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3
South ST, Hannes F., Fisch GS, et al. Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3 Am J Med Genet C Semin Med Genet. 2008 ; 148C: 270-274.
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
Nagamani SC, Zhang F., Shchelochkov OA, et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 ; 46: 825-833.
Chromosome abnormalities and epilepsy: A review for clinicians and gene hunters
Singh R., Gardner RJ, Crossland KM, et al. Chromosome abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia. 2002 ; 43: 127-140.