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脆性X综合征基因型和表型关系的研究 被引量:2

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摘要 脆性X综合征在遗传性智力低下中是最常见的一种。其表型复杂多变,包括认知障碍、体格异常、以及精神行为异常等。本文对脆性X综合征的基因型与表型之间的关系及其基因影响认知功能的基础研究进行综述。
作者 王三梅 李明
出处 《中国医刊》 CAS 2006年第3期26-27,共2页 Chinese Journal of Medicine
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  • 1Eichler EF,Richards S,Gibbs RA,et al.Fine structure of the human FMR1 gene[J].Hum Mol Genet,1993,2:1147-1153.
  • 2Bell MV,Hirst MC,Nakahori Y,et al.Physical mapping across the fragile X Hypermethylation and clinical expression of the fragile X syndrome[J].Cell,1991,64:861-866.
  • 3Tamanini F,Bontekoe C,Bakker CE.Different targets for the fragile X related proteins revealed by distinct nuclear localization[J].Hum Mol Genet,1999,8:863-869.
  • 4Barbara Bardoni,Annette Schenck,Jean-louis Mandel.The Fragile X mental retardation protein[J].Brain Research Bulletin,2001,56:375-382.
  • 5Hagerman RJ,Hagerman PJ.Fragile X syndrome:A model of Gene-Brain-Behavior relationships[J].Mol Genet Metab,2001,74:89-97.
  • 6Franke P,Barbe B,Leboyer M,et al.Fragile X Syndrome II.Cognitive and behavioral correlates of mutations of the FMR-1 gene[J].Eur Psych,1996,11:233-243.
  • 7Keysor CS,Mazzocco MMM.A developmental approach to understanding Fragile X syndrome in Females[J].Microscopy Research and Technique,2002,57:179-186.
  • 8Steyaert J.A distinct neurocognitive phenotype in female fragile X permutation carriers assessed with visual attention tasks[J].Am J Med Genet,2003,116A:44-51.
  • 9Simon JA,Keenan JM,Pennington BF,et al.Discourse processing in women with fragile X syndrome:evidence for a deficit establishing coherence[J].Cogn Neuropsychol,2001,18:1-18.
  • 10Hagerman PJ,Greco CM,Hagerman RJ.A cerebellar tremor/ataxia syndrome among Fragile X premutation carriers[J].Cytogenet Genome Res,2003,100:206-212.

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