-
2
-
-
0037154038
-
Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1
-
Blair IP, Gibson RR, Bennett CL, Chance PF (2002). Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet 22:190-196.
-
(2002)
Am J Med Genet
, vol.22
, pp. 190-196
-
-
Blair, I.P.1
Gibson, R.R.2
Bennett, C.L.3
Chance, P.F.4
-
3
-
-
0017577011
-
Episodic hyperpnea, abnormal eye movemets, retardation, ataxia, associated with dysplasia of the cerebellar vermis
-
Boltshauser E, Isler W (1977). Episodic hyperpnea, abnormal eye movemets, retardation, ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 8:57-66.
-
(1977)
Neuropadiatrie
, vol.8
, pp. 57-66
-
-
Boltshauser, E.1
Isler, W.2
-
4
-
-
0025150331
-
Joubert syndrome. Review of the fifty-three cases so far published
-
Cantani A, Lucenti P, Ronzani GA, Santoro C (1990). Joubert syndrome. Review of the fifty-three cases so far published. Ann Genet 33:96-98.
-
(1990)
Ann Genet
, vol.33
, pp. 96-98
-
-
Cantani, A.1
Lucenti, P.2
Ronzani, G.A.3
Santoro, C.4
-
5
-
-
0032865035
-
Clinical nosologie and genetic aspects of Joubert syndrome and related syndromes
-
Chance PF, Cavalier L, Satran D et al. (1999). Clinical nosologie and genetic aspects of Joubert syndrome and related syndromes. J Child Neurol 14:660-666.
-
(1999)
J Child Neurol
, vol.14
, pp. 660-666
-
-
Chance, P.F.1
Cavalier, L.2
Satran, D.3
-
6
-
-
0023906645
-
Hypoplasia of cerebellar vermal lobules VI and VII in autism
-
Courchesne E, Yeung- Courchesne R, Press GA et al. (1988). Hypoplasia of cerebellar vermal lobules VI and VII in autism. New Engl J Med 318:1349-1354.
-
(1988)
New Engl J Med
, vol.318
, pp. 1349-1354
-
-
Courchesne, E.1
Yeung-Courchesne, R.2
Press, G.A.3
-
7
-
-
0032824674
-
Cognition, behavior, and development in Joubert syndrome
-
Fennell EB, Gitten JC, Dede DE, Maria BL (1999). Cognition, behavior, and development in Joubert syndrome. J Child Neurol 14:592-596.
-
(1999)
J Child Neurol
, vol.14
, pp. 592-596
-
-
Fennell, E.B.1
Gitten, J.C.2
Dede, D.E.3
Maria, B.L.4
-
8
-
-
0031665059
-
Neurobehavioral development in Joubert syndrome
-
Gitten J, Dede D, Fennell E et al. (1998). Neurobehavioral development in Joubert syndrome. J Child Neurol 13:391-397.
-
(1998)
J Child Neurol
, vol.13
, pp. 391-397
-
-
Gitten, J.1
Dede, D.2
Fennell, E.3
-
9
-
-
0025007264
-
A new physiological concept on cerebellum
-
Ito M (1990). A new physiological concept on cerebellum. Rev Neurol 146:564-569.
-
(1990)
Rev Neurol
, vol.146
, pp. 564-569
-
-
Ito, M.1
-
10
-
-
0014572497
-
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and mental retardation
-
Joubert M, Eisenring JJ, Robb JP, Anderman F (1969). Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and mental retardation. Neurology 19:813-825.
-
(1969)
Neurology
, vol.19
, pp. 813-825
-
-
Joubert, M.1
Eisenring, J.J.2
Robb, J.P.3
Anderman, F.4
-
11
-
-
0042763544
-
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
-
Keeler LC, Marsh SE, Leeflang EP et al. (2003). Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet 73:656-662.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 656-662
-
-
Keeler, L.C.1
Marsh, S.E.2
Leeflang, E.P.3
-
12
-
-
0024784290
-
Joubert syndrome: A clinico-radiological study
-
Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P (1990). Joubert syndrome: a clinico-radiological study. Neuroradiology 31:502-506.
-
(1990)
Neuroradiology
, vol.31
, pp. 502-506
-
-
Kendall, B.1
Kingsley, D.2
Lambert, S.R.3
Taylor, D.4
Finn, P.5
-
13
-
-
0031438402
-
Joubert syndrome revisited: Key ocular motor signs with magnetic resonance imaging correlation
-
Maria BL, Hoang KB, Tusa RJ et al. (1977). Joubert syndrome revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 12:423-430.
-
(1977)
J Child Neurol
, vol.12
, pp. 423-430
-
-
Maria, B.L.1
Hoang, K.B.2
Tusa, R.J.3
-
14
-
-
0032851825
-
Clinical features and revised diagnostic criteria in Joubert syndrome
-
Maria BL, Boltshauser E, Palmer SC, Tran TX (1999a). Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 14:583-591.
-
(1999)
J Child Neurol
, vol.14
, pp. 583-591
-
-
Maria, B.L.1
Boltshauser, E.2
Palmer, S.C.3
Tran, T.X.4
-
15
-
-
0032989288
-
Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance
-
Maria BL, Quisling RG, Rosainz LC et al. (1999b). Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 14:368-376.
-
(1999)
J Child Neurol
, vol.14
, pp. 368-376
-
-
Maria, B.L.1
Quisling, R.G.2
Rosainz, L.C.3
-
17
-
-
0032871936
-
Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome
-
Quisling RG, Barkovich AJ, Maria BL (1999). Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 14:628-635.
-
(1999)
J Child Neurol
, vol.14
, pp. 628-635
-
-
Quisling, R.G.1
Barkovich, A.J.2
Maria, B.L.3
-
18
-
-
0032833613
-
Joubert syndrome: Monozygotic twins with discordant phenotypes
-
Raynes HR, Shanske A, Goldberg S, Burde R, Rapin I (1999). Joubert syndrome: monozygotic twins with discordant phenotypes. J Child Neurol 14:649-654.
-
(1999)
J Child Neurol
, vol.14
, pp. 649-654
-
-
Raynes, H.R.1
Shanske, A.2
Goldberg, S.3
Burde, R.4
Rapin, I.5
-
19
-
-
0037121393
-
Joubert syndrome. Report of four cases with a favourable evolution
-
Rivero ME, Pascual CI (2002). Joubert syndrome. Report of four cases with a favourable evolution. Rev Neurol 35:918-921.
-
(2002)
Rev Neurol
, vol.35
, pp. 918-921
-
-
Rivero, M.E.1
Pascual, C.I.2
-
20
-
-
0033358738
-
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
-
Saar K, Al-Gazali L, Sztriha L et al. (1999). Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet 65:1666-1671.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1666-1671
-
-
Saar, K.1
Al-Gazali, L.2
Sztriha, L.3
-
22
-
-
0030664061
-
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis
-
Silverstein DM, Zacharowicz L, Edelman M et al. (1997). Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. Pediatr Nephrol 11:746-749.
-
(1997)
Pediatr Nephrol
, vol.11
, pp. 746-749
-
-
Silverstein, D.M.1
Zacharowicz, L.2
Edelman, M.3
-
24
-
-
0032946767
-
Joubert's syndrome: New cases and review of clinicopathologic correlation
-
Sztriha L, Al-Gazali L, Aithala GR, Nork M (1999). Joubert's syndrome: new cases and review of clinicopathologic correlation. Pediatr Neurol 20:274-281.
-
(1999)
Pediatr Neurol
, vol.20
, pp. 274-281
-
-
Sztriha, L.1
Al-Gazali, L.2
Aithala, G.R.3
Nork, M.4
-
25
-
-
0042262413
-
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
-
Valente EM, Salpietro DC, Brancati F et al. (2003). Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 73:663-670.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 663-670
-
-
Valente, E.M.1
Salpietro, D.C.2
Brancati, F.3
|