Genomic copy number variations at 17p13.3 and epileptogenesis
暂无分享,去创建一个
Kayoko Saito | Toshiyuki Yamamoto | Yukitoshi Takahashi | K. Ohno | M. Matsuo | K. Shimojima | C. Sugiura | Hiroka Takahashi | Mariko Ikegami
[1] N. Philip,et al. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia , 2009, Journal of Medical Genetics.
[2] Z. Ou,et al. Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment , 2009, Journal of Medical Genetics.
[3] Soma Das,et al. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia , 2009, European Journal of Human Genetics.
[4] S. Kjaergaard,et al. A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome , 2009, Journal of Medical Genetics.
[5] Toshiyuki Yamamoto,et al. A de novo intra‐chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein–Taybi region but with no bipolar disorder , 2009, American journal of medical genetics. Part A.
[6] K. Gunderson,et al. Increased LIS1 expression affects human and mouse brain development , 2009, Nature Genetics.
[7] D. Pilz,et al. High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis , 2008, Journal of Medical Genetics.
[8] B. Emanuel,et al. From microscopes to microarrays: dissecting recurrent chromosomal rearrangements , 2007, Nature Reviews Genetics.
[9] Bassem A Bejjani,et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome , 2007, Genetics in Medicine.
[10] K. Kosaki,et al. Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome. , 2007, Pediatric neurology.
[11] J. Lupski,et al. Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders , 2006, Neuron.
[12] W. Dobyns,et al. Lissencephaly and the molecular basis of neuronal migration. , 2003, Human molecular genetics.
[13] D. Ledbetter,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. , 2003, American journal of human genetics.
[14] D. Ledbetter,et al. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. , 2000, Human molecular genetics.
[15] L. Shaffer,et al. Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. , 1999, American journal of medical genetics.
[16] D. Ledbetter,et al. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. , 1993, JAMA.
[17] D. Ledbetter,et al. Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats , 1993, Nature.
[18] D. Ledbetter,et al. Clinical and molecular diagnosis of Miller-Dieker syndrome. , 1991, American journal of human genetics.
[19] W. Arts,et al. Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I , 1990, Developmental medicine and child neurology.