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Rett综合征一例报告

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作者 楼小琳 张茁
出处 《北京医学》 CAS 2006年第9期564-565,共2页 Beijing Medical Journal
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参考文献11

  • 1Trevathan E,Moser H,Opitz J,et al.Diagnostic criteria for Rett syndrome.Ann Neurol,1988,23:425-428.
  • 2Bauman M,Kemper T,Arin D.Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome.Neurology,1995,45:1581-1586.
  • 3唐炬,戚豫,吴希如.Rett综合征及其分子遗传学研究进展[J].中华儿科杂志,1998,36(1):52-53. 被引量:2
  • 4Solaas K,Skjeldal O,Gardner M,et al.Urinary peptides in Rett syndrome.Autism,2002,6:315-329.
  • 5Huppke P,Laccone F,Kramer N,et al.Rett syndrome:analysis of MECP2 and clinical characterization of 31 patients.Human Molecular Genetics,2000,9:1369-1375.
  • 6Auranen M,Vanhala R,Vosman M,et al.MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.Neurology,2001,56:611-617.
  • 7Pan H,Wang Y,Bao X,et al.MECP2 gene mutation analysis in Chinese patients with Rett syndrome.Human Genetics,2002,10:484-486.
  • 8Kerr A.Annotation:Rett syndrome:recent progress and implications for research and clinical practice.Child Psy Psychiatry,2002,43:277-287.
  • 9Topcu M,Akyerli C,Say A,et al.Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.Human Genetics,2002,10:77-81.
  • 10Moncla A,Kpebe A,Missirian C,et al.Polymorphisms in the Cterminal domain of MECP2 in mentally handicapped boys:implications for genetic counseling.Human Genetics,2002,10:86-89.

二级参考文献2

  • 1吴希如,Pediatr Neurol,1988年,4期,126页
  • 2赵东红,中华儿科杂志,1987年,25页

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