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脆性X综合征一家系报道 被引量:1

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出处 《疑难病杂志》 CAS 2008年第9期536-,共1页 Chinese Journal of Difficult and Complicated Cases
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参考文献2

  • 1刘昆,谭信.脆性X综合征的概况[J].中国优生与遗传杂志,2004,12(4):144-146. 被引量:2
  • 2[3]Karunasagar A,Pandit L,Kamar S,et al.Use of methylation sensitive pulymerase chain reaction for detection of fragile X full mutation and carrier state in males[J].Indian J Med Res,2(D5,122(5):429-433.

二级参考文献30

  • 1方针强,隋建峰.FMR-1基因与脆性X综合征[J].四川生理科学杂志,2000,22(3):1-3. 被引量:1
  • 2White B J, Ayad M, Fraser A, et al. A 6 - year experience demonstrates the utility of screening for both cytogenetic and FMR- 1 abnormalities in patients with mental retardation [ J ]. Genet Test,1999, 3(3) :291 - 296.
  • 3Verkerk AJ, et al. Identification of a gene (FMR- 1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome[J]. Cell, 1991, 65:905 -914.
  • 4Churchill JD, Grossman AW, Irwin SA, et al. A converging -methods approach to fragile X syndrome[J]. Dev Psychobiol, 2002,40(3) :323 - 338.
  • 5Greenough WT, Klintsova AY, Irwin SA, et al. Synaptic regulation of protein synthesis and the fragile X protein[J]. Proc Natl Acad Sci USA, 2001, 98(13) :7101 - 7106.
  • 6Hower kwon et al. Functional Neuroanatomy of Visuospatial working memory in fragile X syndrome; Relation to behavioral and molecular measures[J]. Am J Psychiatry, 2001, 158(7): 1040 - 1051.
  • 7Gao FB. Understanding fragile X syndrome: insights from retarded flies[J]. Neuron, 2002, 13:34(6):859-862.
  • 8Kaufmann WE, Cohen S, Sun HT. et al. Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets[J]. Microsc Res Tech, 2002, 57(3): 135 - 144.
  • 9Hoogeveen AT, Willemsen R, Oostra BA. Fragile X syndrome,the Fragile X related proteins, and animal models[J]. Microsc Res Tech, 2002, 57(3): 148 - 155.
  • 10Crawford DC, Acuna JM, Sherman SL. FMR1 and the fragile X syndrome Human genome epidemiology review [J]. Genet Med.2001,3(5) :359 - 371.

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同被引文献3

  • 1朱俊真.产前实验室诊断[M].北京:中国科学技术出版社,2005:162.
  • 2Karunasagar A, Pardi L, Kumar S, et al. Use of methylation sensitive polymerase chain reaction for detection of fragile X full mutation and carrier state in males[J]. Indian J Med Res,2005,122(5) :429-433.
  • 3张宁,赵文清,郭文潮,陈伟华,李小玲,刘建辉.脆性X综合征研究进展[J].疑难病杂志,2008,7(4):248-250. 被引量:1

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