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Volumn 16, Issue 1, 2010, Pages 3-6

Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders

Author keywords

Brain stem; Cerebellum; Hippocampal formation; Magnetic resonance imaging

Indexed keywords

ADOLESCENT; AMBIENT CISTERN LIPOMA; ARTICLE; BRAIN CYST; BRAIN DISEASE; BRAIN MALFORMATION; BRAIN STEM; BRAIN VENTRICLE DILATATION; CEREBELLAR FOLIAL DISORGANIZATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; ENCEPHALOCELE; FEMALE; HETEROTOPIA; HIPPOCAMPAL MALFORMATION; HUMAN; HYPOPLASIA; JOUBERT SYNDROME; LATERAL BRAIN VENTRICLE; LIPOMA; MALE; MEDICAL RECORD REVIEW; MICROGYRIA; MOLAR TOOTH; MORBIDITY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PARENCHYMAL CYST; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; TEMPORAL LOBE HYPOPLASIA;

EID: 77749282984     PISSN: 13053825     EISSN: 13053612     Source Type: Journal    
DOI: 10.4261/1305-3825.DIR.2673-09.1     Document Type: Article
Times cited : (28)

References (23)
  • 1
    • 0014572497 scopus 로고
    • Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation
    • Joubert M, Eisenring JJ, Robb JP Andermann F. Familial agenesis of the cerebellar 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
    • 0032871936 scopus 로고    scopus 로고
    • Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome
    • Quisling RG, Barkovich AJ, Maria BL. Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 1999; 14:628-635.
    • (1999) J Child Neurol , vol.14 , pp. 628-635
    • Quisling, R.G.1    Barkovich, A.J.2    Maria, B.L.3
  • 3
    • 0344584814 scopus 로고    scopus 로고
    • The molar tooth sign
    • McGraw P. The molar tooth sign. Radiology 2003; 229:671-672.
    • (2003) Radiology , vol.229 , pp. 671-672
    • McGraw, P.1
  • 4
    • 38549180757 scopus 로고    scopus 로고
    • Genotypes and phenotypes of Joubert syndrome and related disorders
    • Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 2008; 51:1-23.
    • (2008) Eur J Med Genet , vol.51 , pp. 1-23
    • Valente, E.M.1    Brancati, F.2    Dallapiccola, B.3
  • 5
    • 0033615477 scopus 로고    scopus 로고
    • Cerebello-oculo-renal syndromes including Arima, Senior-Löken, and COACH syndromes: More than just variants of Joubert syndrome
    • Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Löken, and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet 1999; 86:459-469.
    • (1999) Am J Med Genet , vol.86 , pp. 459-469
    • Satran, D.1    Pierpont, M.E.2    Dobyns, W.B.3
  • 6
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
    • Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet 2004; 125:125-134.
    • (2004) Am J Med Genet , vol.125 , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3
  • 9
    • 19544366559 scopus 로고    scopus 로고
    • Joubert syndrome associated with lissencephaly
    • Ozyurek H, Kose G. Joubert syndrome associated with lissencephaly. Indian Pediatr 2005; 42:494-495.
    • (2005) Indian Pediatr , vol.42 , pp. 494-495
    • Ozyurek, H.1    Kose, G.2
  • 10
    • 33750291247 scopus 로고    scopus 로고
    • Anomalies of the corpus callosum: An MR analysis of the phenotypic spectrum of associated malformations
    • Hetts SW, Sherr EH, Chao S, Gobuty S, Barkovich AJ. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. AJR Am J Roentgenol 2006; 187:1343-1348.
    • (2006) AJR Am J Roentgenol , vol.187 , pp. 1343-1348
    • Hetts, S.W.1    Sherr, E.H.2    Chao, S.3    Gobuty, S.4    Barkovich, A.J.5
  • 11
    • 0035112819 scopus 로고    scopus 로고
    • MR evaluation of the hippocampus in patients with congenital malformations of the brain
    • Sato N, Hatakeyama S, Shimizu N, Hikima A, Aoki J, Endo K. MR evaluation of the hippocampus in patients with congenital malformations of the brain. AJNR Am J Neuroradiol 2001; 22:389-393.
    • (2001) AJNR Am J Neuroradiol , vol.22 , pp. 389-393
    • Sato, N.1    Hatakeyama, S.2    Shimizu, N.3    Hikima, A.4    Aoki, J.5    Endo, K.6
  • 12
    • 15444351738 scopus 로고    scopus 로고
    • Baulac M, De Grissac N, Hasboun D, A et al. Hippocampal developmental changes in patients with partial epilepsy: magnetic resonance imaging and clinical aspects. Ann Neurol 1998; 44:223-233.
    • Baulac M, De Grissac N, Hasboun D, A et al. Hippocampal developmental changes in patients with partial epilepsy: magnetic resonance imaging and clinical aspects. Ann Neurol 1998; 44:223-233.
  • 14
    • 55249102622 scopus 로고    scopus 로고
    • CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
    • Gorden NT, Arts HH, Parisi MA, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 2008; 83:559-571.
    • (2008) Am J Hum Genet , vol.83 , pp. 559-571
    • Gorden, N.T.1    Arts, H.H.2    Parisi, M.A.3
  • 15
    • 2342424350 scopus 로고    scopus 로고
    • Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: Functional magnetic resonance imaging (MRI) study
    • Parisi MA, Pinter JD, Glass IA, et al. Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study. J Child Neurol 2004; 19:214-218.
    • (2004) J Child Neurol , vol.19 , pp. 214-218
    • Parisi, M.A.1    Pinter, J.D.2    Glass, I.A.3
  • 16
    • 13244270230 scopus 로고    scopus 로고
    • Diffusion-tensor MR imaging and fiber tractography: A new method of describing aberrant fiber connections in developmental CNS anomalies
    • Lee SK, Kim DI, Kim J, et al. Diffusion-tensor MR imaging and fiber tractography: a new method of describing aberrant fiber connections in developmental CNS anomalies. Radiographics 2005; 25:53-68.
    • (2005) Radiographics , vol.25 , pp. 53-68
    • Lee, S.K.1    Kim, D.I.2    Kim, J.3
  • 17
    • 33646734855 scopus 로고    scopus 로고
    • Diffusion tensor imaging of midline posterior fossa malformations
    • Widjaja E, Blaser S, Raybaud C. Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol 2006; 36:510-517.
    • (2006) Pediatr Radiol , vol.36 , pp. 510-517
    • Widjaja, E.1    Blaser, S.2    Raybaud, C.3
  • 19
    • 0032946767 scopus 로고    scopus 로고
    • Joubert's syndrome: New cases and review of clinicopathologic correlation
    • Sztriha L, Al-Gazali LI, Aithala GR, Nork M. Joubert's syndrome: new cases and review of clinicopathologic correlation. Pediatr Neurol 1999; 20:274-281.
    • (1999) Pediatr Neurol , vol.20 , pp. 274-281
    • Sztriha, L.1    Al-Gazali, L.I.2    Aithala, G.R.3    Nork, M.4
  • 21
    • 0032833614 scopus 로고    scopus 로고
    • Neuropathology of Joubert syndrome
    • Yachnis AT, Rorke LB. Neuropathology of Joubert syndrome. J Child Neurol 1999; 14:655-659.
    • (1999) J Child Neurol , vol.14 , pp. 655-659
    • Yachnis, A.T.1    Rorke, L.B.2
  • 23
    • 21844453250 scopus 로고    scopus 로고
    • Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI
    • Doherty D, Glass IA, Siebert JR, et al. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn 2005; 25:442-447.
    • (2005) Prenat Diagn , vol.25 , pp. 442-447
    • Doherty, D.1    Glass, I.A.2    Siebert, J.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.