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脆性X综合征发病机制与治疗研究进展 被引量:1

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出处 《中国优生与遗传杂志》 2010年第12期3-4,共2页 Chinese Journal of Birth Health & Heredity
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参考文献12

  • 1Turner G, Webb T, Wake S, et al . Prevalence of fragile X syndrome [J]. Am J Med Genet,1996,64 ( 1 ) :196 - 197.
  • 2Verkerk AJ,et al. Identification of a gene ( FMR1 ) containing a CGG repeat coincident with a breskpoint cluster region exhibiting length variation in fragile X syndrome [ J ]. Cell, 1991,65 (5) :905.
  • 3丁侃,李兰英,范钰,许琪,韩富天,朱宁宁,刘恩莉,林炳承,吴冠芸,沈岩.成人及胚胎组织中FMR1基因的选择剪接表达[J].自然科学进展(国家重点实验室通讯),1999,9(8):696-702. 被引量:4
  • 4Tassone F, Hagerman RJ, Ikl -DN, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome[ J]. Am J Med Genet, 1999,84(3) :250 - 261.
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  • 6Coffee B, Ikeda M, Budimirovic DB, et al. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis [ J ]. Am J Med Genet A,2008,146A(10) :1358 - 1367.
  • 7翟晓文.脆性X综合征的筛查与诊断[J].国外医学(儿科学分册),1999,26(2):57-59. 被引量:5
  • 8Willemsen R, Smits A, Mohkamsing S, et al. Rapid antibody test for diagnosing fragile X syndrome :a validation of the technique [ J]. Hum Genet, 1997,99 ( 3 ) :308 - 311.
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二级参考文献2

  • 1R. Willemsen,Arie Smits,Serieta Mohkamsing,H. van Beerendonk,Anton de Haan,B. de Vries,A. van den Ouweland,Erik Sistermans,Hans Galjaard,B. A. Oostra. Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique[J] 1997,Human Genetics(3):308~311
  • 2Luciana A. Haddad,Regina C. Mingroni-Netto,Angela M. Vianna-Morgante,Sérgio D. J. Pena. A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males[J] 1996,Human Genetics(6):808~812

共引文献7

同被引文献18

  • 1刘立公,顾杰,刘婕,沈雪勇.古代文献中督脉及其腧穴主治的统计报告[J].针灸临床杂志,2010,26(5):43-45. 被引量:38
  • 2Levenga J, de Vrij FM, Oostra BA, et al. Potential therapeutic interventions for fragile X syndrome. Trends Mol Med. 2010; 16(11):516-527.
  • 3Pieretti M, Zhang FP, Fu YH, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991 ;66(4): 817-822.
  • 4IliffAJ, Renoux A J, Krans A, et al. Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice. Hum Mol Genet. 2013;22(6): 1180-1192.
  • 5Kimura I, Nakayama Y, Zhao Y, et al. Neurotrophic effects of neudesin in the central nervous system. Front Neurosci. 2013;7:111.
  • 6Budnik V, Salinas PC. Wnt signaling during synaptic development and plasticity. Curr Opin Neurobiol. 2011 ;21 (1): 151-159.
  • 7D'Hulst C, Kooy RF. The GABAA receptoi~: a novel target for treatment of fragile X? Trends Neurosci. 2007;30(8):425-431.
  • 8Paxinos G, Watson C. The Rat Brain in Stereotaxic Coordinates. 5th ed. London: Academic Press,2005.
  • 9杜静.神经营养因子和细胞因子在介导针灸效应中的作用[J].针刺研究,2008,33(1):37-40. 被引量:11
  • 10徐琴,竺智伟,赵正言.脆性X综合征树突棘形态发育研究进展[J].神经解剖学杂志,2009,25(5):587-590. 被引量:7

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