-
1
-
-
0014572497
-
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
-
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
-
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
-
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
-
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
-
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
-
7
-
-
0036224347
-
Joubert syndrome with associated corpus callosum agenesis
-
Zamponi N, Rossi B, Messori A, Polonara G, Regnicolo L, Cardinali C. Joubert syndrome with associated corpus callosum agenesis. Eur J Paediatr Neurol 2002; 6:63-66.
-
(2002)
Eur J Paediatr Neurol
, vol.6
, pp. 63-66
-
-
Zamponi, N.1
Rossi, B.2
Messori, A.3
Polonara, G.4
Regnicolo, L.5
Cardinali, C.6
-
9
-
-
19544366559
-
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
-
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
-
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
-
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
22
-
-
30144439539
-
Brain stem and cerebellar findings in Joubert syndrome
-
Alorainy IA, Sabir S, Seidahmed MZ, Farooqu HA, Salih MA. Brain stem and cerebellar findings in Joubert syndrome. J Comput Assist Tomogr 2006; 30:116-121.
-
(2006)
J Comput Assist Tomogr
, vol.30
, pp. 116-121
-
-
Alorainy, I.A.1
Sabir, S.2
Seidahmed, M.Z.3
Farooqu, H.A.4
Salih, M.A.5
-
23
-
-
21844453250
-
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
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