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CT诊断Joubert综合征1例 被引量:1

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出处 《蚌埠医学院学报》 CAS 2010年第10期1045-1045,共1页 Journal of Bengbu Medical College
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  • 1蔡宗尧,刘文,吕耀娟.Dandy-Walker综合征的CT诊断(附七例报告)[J].中华放射学杂志,1994,28(8):522-524. 被引量:21
  • 2朱珍,帕米尔,朱杰明,钱镔.Joubert综合征的CT和MRI诊断[J].中华放射学杂志,2005,39(12):1256-1259. 被引量:34
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共引文献33

同被引文献31

  • 1朱珍,帕米尔,朱杰明,钱镔.Joubert综合征的CT和MRI诊断[J].中华放射学杂志,2005,39(12):1256-1259. 被引量:34
  • 2王凡.Joubert综合征的MRI表现及诊断价值[J].华西医学,2007,22(3):480-481. 被引量:6
  • 3Joubert M, Eisenring JJ, Robb JP, et al. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation[J]. Neurology, 1969, 19(9):813-825.
  • 4Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vennis[J]. Neuropadiatrie, 1977, 8(1): 57-66.
  • 5Wolfe L, Lakadamyali H, Mutlu GM. Joubert syndrome associated with severe central sleep apnea[J]. J Clin Sleep Med, 2010, 6(4): 384-388.
  • 6Yachnis AT, Rorke LB. Cerebellar and brainstem development: an overview in relation to Joubert syndrome[J]. J Child Neurol, 1999, 14(9): 570-573.
  • 7Theoret H, Gleeson J, Pascual-Leone A. Neurophysiologic characterization of motor and sensory projections in Joubert syndrome[J]. Clin Neurophysiol, 2013, 124( 11): 2283-2284.
  • 8Senocak EU, Oz KK, Halilolu G, et al. Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders[J]. Diagn Interv Radiol, 2010, 16(1): 3-6.
  • 9Tsurusald Y, Kosho T, Hatasaki K, et al. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients[J]. Clin Genet, 2013, 83(2): 135-144.
  • 10. Parisi MA, Doherty D, Chance PF, et al. Joubert syndrome (and related disorders) (OMIM 213300) [J]. Eur J Hum Genet, 2007, 15(5): 511-521.

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