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原发性纤毛运动障碍1例报告

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作者 王泽波 张硕
出处 《山西医科大学学报》 CAS 2010年第2期183-184,共2页 Journal of Shanxi Medical University
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参考文献6

  • 1殷勇,肖洁.原发性纤毛运动障碍临床研究进展[J].国际儿科学杂志,2006,33(4):242-244. 被引量:9
  • 2Omran H. Genetic defects in primary ciliary dyskinesia[ J]. Monatsschrift Kinderheilkunde,2005,153 (3) :246 - 254.
  • 3Jeganahan D, Chodhari R, Meeks M, et al. Loci for primary ciliary dyskinesia map to chromosome 16p12.1 - 12.2 and 15q13.1 - 15.1 in Fame Islands and Israeli Druze genetic isolates[J]. J Med Genet, 200d- ,41 (3) :233 - 240.
  • 4Carda C, Armengot M, Escribano A, et al. Ultrastructural patterns of primary ciliar dyskinesia syndrome [ J ]. Ultrastructuct Pathol, 2005,29( 1 ) :3 - 8.
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  • 6Van' s Gravosande KS, Omran H. Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics [ J ]. Ann Med, 2005,37 (6) :439 -449.

二级参考文献15

  • 1Cowan MJ,Gladwin MT,Shelhamer JH.Disorders of ciliary motility[J].Am J Med Sci,2001,321(1):3-10.
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  • 3De Scally M,Lobetti RG,Van Wilpe E.Primary ciliary dyskinesia in a Staffordshire bull terrier[J].J Afr Vet Assoc,2004,75(3):150-152.
  • 4Kobayashi Y,Watanabe M,Okada Y,et al.Hydrocephalus,situs inversus,chronic sinusitis,and male infertility in DNA polymerase λ-deficient mice:possible implication for the pathogenesis of immotile cilia syndrome[J].Mol Cell Biol,2002,22(8):2769-2776.
  • 5Ibanez-Tallon I,Gorokhova S,Heintz N.Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus[J].Hum Mol Genet,2002,11(6):715-721.
  • 6Omran H.Genetic defects in primary ciliary dyskinesia[J].Monatsschrift fur Kinderheilkunde,2005,153 (3):246-254.
  • 7Jeganathan D,Chodhari R,Meeks M,et al.Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates[J].J Med Genet,2004,41(3):233-240.
  • 8Coren ME,Meeks M,Morrsion I,et al.Primary ciliary dyskinesia:age at diagnosis and symptom history[J].Acta Paediatr,2002,91 (6):667-669.
  • 9Friedman NR,Pachigolla R,Deskin RW,et al.Optimal technique to diagnose primary ciliary dyskinesia[J].Laryngoscope,2000,110(9):1548-1551.
  • 10Bush A,O'Callaghan C.Primary ciliary dyskinesia[J].Arch Dis Child,2002,87(5):363-365.

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