Double, Double Toil and Trouble.
作者信息
Poot Martin
出版信息
Mol Syndromol. 2015 Sep;6(3):106-7. doi: 10.1159/000437009. Epub 2015 Jul 21.
Abstract
摘要
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本文引用的文献
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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.PLP1基因座的复杂基因组重排包括三倍体和四倍体。
PLoS Genet. 2015 Mar 6;11(3):e1005050. doi: 10.1371/journal.pgen.1005050. eCollection 2015 Mar.
2
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.在一个三代家系中，CHRNA7基因三倍体与认知障碍和神经精神表型相关。
Eur J Hum Genet. 2014 Sep;22(9):1071-6. doi: 10.1038/ejhg.2013.302. Epub 2014 Jan 15.
3
Replicative mechanisms for CNV formation are error prone.CNV 形成的复制机制容易出错。
Nat Genet. 2013 Nov;45(11):1319-26. doi: 10.1038/ng.2768. Epub 2013 Sep 22.
4
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.解析 DMD 基因中复杂重复-三重复排序列的结构和机制。
Hum Mutat. 2013 Aug;34(8):1080-4. doi: 10.1002/humu.22353. Epub 2013 Jun 3.
5
Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.人类 VIPR2 基因的低拷贝重复序列易导致反复发生和非反复发生的重排。
Eur J Hum Genet. 2013 Jul;21(7):757-61. doi: 10.1038/ejhg.2012.235. Epub 2012 Oct 17.
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An integrated encyclopedia of DNA elements in the human genome.人类基因组中 DNA 元件的综合百科全书。
Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247.
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Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.佩利措伊斯-梅茨巴赫病由包括PLP1区域在内的染色体片段的重复-反向三倍体-重复引起。
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Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.解析复杂疾病的众多基因组学，尤其聚焦于自闭症、癫痫和精神分裂症。
Cytogenet Genome Res. 2011;135(3-4):228-40. doi: 10.1159/000334064. Epub 2011 Nov 12.
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Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.用于检测特发性智力障碍、特发性全身性癫痫和神经精神疾病中拷贝数变异的基因组阵列：对诊断流程和研究的启示
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.人类基因组中的反向重复序列介导了倒位基因组片段和复杂的三倍体重排。
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