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Joubert综合征一例 被引量:1

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出处 《放射学实践》 北大核心 2009年第11期1218-1218,共1页 Radiologic Practice
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  • 1Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. AJNR, 2002,23 : 1074-1087.
  • 2Maria BL, Hoang KB, Tusa RJ, et al. "Joubert syndrome"revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neural, 1997, 12:423-430.
  • 3Maria BL, Boltshauser E, Palmer SC, et al. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol,1999, 14: 583-591.
  • 4Mafia BL, Quisling RG, Rosainz LC, et al. Molar tooth sign in Joubert syndrome : clinical, radiologic, and pathologic significance.J Child Neurol, 1999, 14:368-376.
  • 5Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Afima, Senior-Loken and COACH syndromes:more than just variants of Joubert syndrome. Am J Med Genet,1999, 86:459-469.
  • 6Joubert M, Eisenfing JJ, Robb JP, et al. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 1969, 19: 813-825.
  • 7Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea,abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropaediatrie, 1977, 8:57-66.
  • 8Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J MedGenet, 1992, 43:726-731.
  • 9Shian WJ, Chi CS, Mak SC, et al. Joubert syndrome in Chinese infants and children : a report of four cases. Zhonghua Yi Xue Za Zhi(Taipei), 1993, 52:342-345.
  • 10Yang MT, Chen CH, Chi CS, et al. Cerebellar dysgenesis in infants and children: an experience of 22 cases. Zhonghua Min Guo Xiao ErKe Yi Xue Hui Za Zhi, 1996, 37:342-348.

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  • 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王化,谢晟,肖江喜.Joubert综合征一例[J].中华放射学杂志,2006,40(3):328-329. 被引量:4
  • 3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
  • 4Maria BL,boltshauser E,Palmer SC,et al.Clinical features and revised diagnostic critetia in Joubert syndrome.J Child Neurol,1999,14:583-590.
  • 5Gcgraw P.The molar tooth sign.Radiology,2003,229:671-672.
  • 6Maria BL,Quishing RG,Rosainz LC,et al.Molar tooth sign in Joubert syndrome:clinical,radiologic,and pathologic significance.J Child Neurol,1999,14:368-376.
  • 7Joubert M,Eisenring JJ,Robb JP,et al.Familial agenesis of the cerebellar vermis.A syndrome of episodic hyperpenea,abnormal eye movements,ataxia,and retardation.Neurology,1969,19:813-825.
  • 8Boltshauser E,Isler W.Joubert syndrome:episodic hypepnes abnomal eye movements,retardation and ataxia,associated with dysplasis of the cerebellar vermis.Neuropaediatrie,1977,8:57-60.
  • 9Louie CM,Gleeson JG.Genetic basis of Joubert syndrome and related disorders of related disorders of cerebellar development Hum Mol Genet,2005,14:235-242.
  • 10Parisi MA,Doherty D,Chance PF,et al.Joubert syndrome (and related disorders) (OMIM 213300).Eur J Hum Genet,2007,15:511-521.

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