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Arnold-Chiari畸形2例误诊分析 被引量:1

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出处 《中国实用儿科杂志》 CSCD 北大核心 2003年第4期220-220,共1页 Chinese Journal of Practical Pediatrics
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  • 1Ellaway CJ,Badawi N, Raffaele L,et al. A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening[J]. Clin Dysmorphol,2001,10(3) : 185-188.
  • 2Hagberg B, Hanefeld F, Percy A, et al. An update on clinically applicable diagnostic criteria in Rett syndrome [ J ]. Eur J Paediatr Neurol,2002,6 ( 5 ) :293-297.
  • 3Amir RE, van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG binding protein 2 [ J ]. Nat Genet, 1999,23 : 185-188.
  • 4Chang Q, Khare G, Dani V, et al. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression [ J]. Neuron,2006,49(3 ) :341-348.
  • 5Laccone F, Zoll B, Huppke P, et al. MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution [ J]. J Med Genet,2002,39( 8 ) :586-588.
  • 6Weaving LS, Ellaway C J, Gecz J, et al. Rett syndrome : clinical review and genetic update [ J ]. J Med Genet,2005,42 ( 1 ) : 1-7.
  • 7Giampietro PF,Schowaher DB, Merchant S,et al. Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome [ J ]. Childs Nerv Syst,2006,22 ( 3 ) :320-324.

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