Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.
作者信息
Bort S, Martínez F, Palau F
出版信息
Am J Hum Genet. 1997 Jan;60(1):230-3.
Abstract
摘要
相似文献
1
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.1A型遗传性运动感觉神经病中从头发生的1.5兆碱基重复的患病率及亲本来源
Am J Hum Genet. 1997 Jan;60(1):230-3.
2
3
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.1A型遗传性运动感觉神经病中新生重复的起源：精子发生过程中不等的非姐妹染色单体交换。
Hum Mol Genet. 1993 Dec;2(12):2031-5. doi: 10.1093/hmg/2.12.2031.
4
Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.
Clin Genet. 1994 Oct;46(4):291-4. doi: 10.1111/j.1399-0004.1994.tb04162.x.
5
De novo mutation of Charcot-Marie-Tooth disease type 1A.
Pediatr Neurol. 1997 Jul;17(1):67-9. doi: 10.1016/s0887-8994(97)80670-4.
6
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.1A型遗传性运动感觉神经病的重复现象似乎源于1.5 Mb单体单元侧翼重复序列处的重组。
Nat Genet. 1992 Dec;2(4):292-300. doi: 10.1038/ng1292-292.
7
Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.患有1型Charcot-Marie-Tooth病17p11.2重复纯合子的患者。
Ann Neurol. 1997 Jan;41(1):104-8. doi: 10.1002/ana.410410117.
8
New allele of probe D17S61 present in the Charcot-Marie-Tooth 1A duplication.夏科-马里-图思病1A型重复中存在的探针D17S61新等位基因。
Clin Genet. 1994 Nov;46(5):380-1. doi: 10.1111/j.1399-0004.1994.tb04184.x.
9
Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.瑞典北部的夏科-马里-图思病：系谱分析及17号染色体p11.2区域重复的存在情况
J Med Genet. 1994 Jun;31(6):435-41. doi: 10.1136/jmg.31.6.435.
10
De novo duplication in Charcot-Marie-Tooth type 1A.1A型遗传性运动感觉神经病的新发重复
Am J Hum Genet. 1996 Sep;59(3):739-40.
引用本文的文献
1
Chromosomal phenotypes and submicroscopic abnormalities.染色体表型和亚显微异常
Hum Genomics. 2004 Jan;1(2):126-33. doi: 10.1186/1479-7364-1-2-126.
2
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.索托斯综合征中由合子前染色体或染色单体重排导致的微缺失的父系起源偏好。
Am J Hum Genet. 2003 May;72(5):1331-7. doi: 10.1086/375166. Epub 2003 Apr 9.
3
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.普拉德-威利综合征和安吉尔曼综合征中的染色体断裂涉及近端和远端断点处大型转录重复序列之间的重组。
Am J Hum Genet. 1999 Aug;65(2):370-86. doi: 10.1086/302510.
本文引用的文献
1
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.1型遗传性运动感觉神经病和易患压迫性麻痹的遗传性神经病的突变频率估计：一项欧洲合作研究。
Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166.
2
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.夏科-马里-图斯病1A型重复序列3.2 kb区域内的重组热点：易患压迫性麻痹的遗传性神经病和夏科-马里-图斯病1A型分子诊断的新工具。法国CMT协作研究小组
Am J Hum Genet. 1996 Jun;58(6):1223-30.
3
4
Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.CMT1A重复序列分析：定位CMT1A和HNPP中的交叉断点
Hum Mol Genet. 1995 Dec;4(12):2327-34. doi: 10.1093/hmg/4.12.2327.
5
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.一个与两种遗传性周围神经病相关的重组热点位于一个类水手转座子元件附近。
Nat Genet. 1996 Mar;12(3):288-97. doi: 10.1038/ng0396-288.
6
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.1A型遗传性运动感觉神经病中新生重复的起源：精子发生过程中不等的非姐妹染色单体交换。
Hum Mol Genet. 1993 Dec;2(12):2031-5. doi: 10.1093/hmg/2.12.2031.
7
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.两种常染色体显性神经病变是由17号染色体上一个区域的DNA相互重复/缺失引起的。
Hum Mol Genet. 1994 Feb;3(2):223-8. doi: 10.1093/hmg/3.2.223.
8
A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings.一种散发型遗传性神经病变伴压迫性麻痹易感性：临床、电诊断及分子遗传学发现
Neurology. 1994 Apr;44(4):753-5. doi: 10.1212/wnl.44.4.753.
9
Genetic aspects of hereditary motor and sensory neuropathy (types I and II).遗传性运动和感觉神经病（I型和II型）的遗传学方面
J Med Genet. 1980 Oct;17(5):329-36. doi: 10.1136/jmg.17.5.329.
10
The cloning of the Bar region and the B breakpoint in Drosophila melanogaster: evidence for a transposon-induced rearrangement.果蝇中Bar区域和B断点的克隆：转座子诱导重排的证据
Genetics. 1989 Aug;122(4):881-90. doi: 10.1093/genetics/122.4.881.
Zotero 插件