The FRAXE Syndrome: is it time for routine screening?
作者信息
Brown W T
出版信息
Am J Hum Genet. 1996 May;58(5):903-5.
Abstract
摘要
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本文引用的文献
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A candidate gene for mild mental handicap at the FRAXE fragile site.位于FRAXE脆性位点的轻度智力障碍候选基因。
Hum Mol Genet. 1996 Feb;5(2):275-82. doi: 10.1093/hmg/5.2.275.
2
3
Positive fragile X microsatellite associations point to a common mechanism of dynamic mutation evolution.脆性X微卫星阳性关联指向动态突变进化的共同机制。
Am J Hum Genet. 1996 Mar;58(3):641-3.
4
Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1.FXR1高度保守的3'非翻译区和表达模式表明FXR1和FMR1存在不同的基因调控。
Hum Mol Genet. 1995 Dec;4(12):2209-18. doi: 10.1093/hmg/4.12.2209.
5
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.使用非放射性聚合酶链反应检测进行快速脆性X携带者筛查和产前诊断。
JAMA. 1993 Oct 6;270(13):1569-75.
6
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.脆性X染色体E型智力障碍中三核苷酸重复扩增及一个CpG岛的高甲基化
Cell. 1993 Jul 16;74(1):127-34. doi: 10.1016/0092-8674(93)90300-f.
7
Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome.
Lancet. 1993 Oct 23;342(8878):1025-6. doi: 10.1016/0140-6736(93)92882-t.
8
Striking founder effect for the fragile X syndrome in Finland.芬兰脆性X综合征存在显著的奠基者效应。
Eur J Hum Genet. 1993;1(3):181-9. doi: 10.1159/000472412.
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Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.FRAXE基因座的三联体重复扩增与X连锁轻度智力障碍
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Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.一个大家庭中FRAXE的分离：临床、心理测量、细胞遗传学和分子数据。
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