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Volumn 216, Issue 2, 2000, Pages 379-382

Case 25: Joubert syndrome

Author keywords

Brain, abnormalities; Brain, MR; Brain, ventricles; Diagnosis please; Joubert syndrome

Indexed keywords

ARTICLE; BREATHING APPARATUS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; EYE MOVEMENT DISORDER; HUMAN; INFANT; JOUBERT SYNDROME; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; VISUAL DISORDER;

EID: 0033902956     PISSN: 00338419     EISSN: None     Source Type: Journal    
DOI: 10.1148/radiology.216.2.r00au34379     Document Type: Article
Times cited : (27)

References (14)
  • 1
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    • Familial agenesis of the vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
    • Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969; 19:813-825.
    • (1969) Neurology , vol.19 , pp. 813-825
    • Joubert, M.1    Eisenring, J.J.2    Robb, J.P.3    Andermann, F.4
  • 2
    • 0017577011 scopus 로고
    • Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis
    • Boltshauser 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.
    • (1977) Neuropaediatrie , vol.8 , pp. 57-66
    • Boltshauser, E.1    Isler, W.2
  • 4
    • 0031438402 scopus 로고    scopus 로고
    • "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation
    • Maria BL, Hoang KB, Tusa RJ, et al. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997; 12:423-430.
    • (1997) J Child Neurol , vol.12 , pp. 423-430
    • Maria, B.L.1    Hoang, K.B.2    Tusa, R.J.3
  • 5
    • 0021149532 scopus 로고
    • Joubert's syndrome with retinal dysplasia: Neonatal tachypnoea as the clue to a genetic brain-eye malformation
    • King MD, Dudgeon J, Stephenson JB. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child 1984; 59:709-718.
    • (1984) Arch Dis Child , vol.59 , pp. 709-718
    • King, M.D.1    Dudgeon, J.2    Stephenson, J.B.3
  • 8
    • 0018932864 scopus 로고
    • The joubert syndrome associated with bilateral chorioretinal coloboma
    • Lindhout D, Barth PG, Valk J, Boen-Tan TN. The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 1980; 134:173-176.
    • (1980) Eur J Pediatr , vol.134 , pp. 173-176
    • Lindhout, D.1    Barth, P.G.2    Valk, J.3    Boen-Tan, T.N.4
  • 10
    • 0002445151 scopus 로고    scopus 로고
    • Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B
    • Hildebrandt F, Nothwang HG, Vossmerbaumer U, et al. Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. Pediatr Nephrol 1998; 12:16-19.
    • (1998) Pediatr Nephrol , vol.12 , pp. 16-19
    • Hildebrandt, F.1    Nothwang, H.G.2    Vossmerbaumer, U.3
  • 12
    • 0027983586 scopus 로고
    • Cerebellar vermian defects: Antenatal sonographic appearance and clinical significance
    • Keogan MT, DeAtkine AB, Hertzberg BS. Cerebellar vermian defects: antenatal sonographic appearance and clinical significance. J Ultrasound Med 1994; 13:607-611.
    • (1994) J Ultrasound Med , vol.13 , pp. 607-611
    • Keogan, M.T.1    DeAtkine, A.B.2    Hertzberg, B.S.3
  • 14
    • 0030922054 scopus 로고    scopus 로고
    • Anaesthetic management of children with Joubert syndrome
    • Habre W, Sims C, D'Souze M. Anaesthetic management of children with Joubert syndrome. Paediatric Anaesth 1997; 7:251-253.
    • (1997) Paediatric Anaesth , vol.7 , pp. 251-253
    • Habre, W.1    Sims, C.2    D'Souze, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.