-
2
-
-
0024566720
-
JS associated with congenital ocular fibrosis and histidinaemia
-
Appleton RE, Chityat D, Jan JE, Kennedy R, Hall JG. (1989) JS associated with congenital ocular fibrosis and histidinaemia. Arch Neurol 46: 579-582.
-
(1989)
Arch. Neurol.
, vol.46
, pp. 579-582
-
-
Appleton, R.E.1
Chityat, D.2
Jan, J.E.3
Kennedy, R.4
Hall, J.G.5
-
3
-
-
58149372400
-
Chorioretinal coloboma and Joubert syndrome
-
Beemer FA, Gooskens R. (1985) Chorioretinal coloboma and Joubert syndrome. J Pediatr 107: 158-159.
-
(1985)
J. Pediatr.
, vol.107
, pp. 158-159
-
-
Beemer, F.A.1
Gooskens, R.2
-
4
-
-
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 107: 190-196.
-
(2002)
Am. J. Med. Genet.
, vol.107
, pp. 190-196
-
-
Blair, I.P.1
Gibson, R.R.2
Bennett, C.L.3
Chance, P.F.4
-
5
-
-
0017577011
-
Joubert syndrome: Episodic hyperpnoea, abnormal eye movements, retardation and ataxia associated with dysplasia of the cerebellum vermis
-
Boltshauser E, Isler W. (1977) Joubert syndrome: episodic hyperpnoea, abnormal eye movements, retardation and ataxia associated with dysplasia of the cerebellum vermis. Neuropaediatrics 8: 57-66.
-
(1977)
Neuropaediatrics
, vol.8
, pp. 57-66
-
-
Boltshauser, E.1
Isler, W.2
-
6
-
-
0019421986
-
Joubert syndrome: Clinical and polygraphic observation in a further case
-
Boltshauser E, Herden M, Dumermuth G, Isler W. (1981) Joubert syndrome: clinical and polygraphic observation in a further case. Neuropaediatrics 12: 181-191.
-
(1981)
Neuropaediatrics
, vol.12
, pp. 181-191
-
-
Boltshauser, E.1
Herden, M.2
Dumermuth, G.3
Isler, W.4
-
8
-
-
0021927379
-
Variability of outcome in Joubert syndrome
-
Casaer P, Vles JSH, Devleiger H, Eggermont E, Boel M, Dom R. (1985) Variability of outcome in Joubert syndrome. Neuropaediatrics 16: 43-45.
-
(1985)
Neuropaediatrics
, vol.16
, pp. 43-45
-
-
Casaer, P.1
Vles, J.S.H.2
Devleiger, H.3
Eggermont, E.4
Boel, M.5
Dom, R.6
-
11
-
-
0034190618
-
Abnormal supranuclear eye movements in the child: A practical guide to examination and interpretation
-
Cassidy L, Taylor D, Harris C. (2000) Abnormal supranuclear eye movements in the child: a practical guide to examination and interpretation. Surv Ophthalmol 44: 479-506.
-
(2000)
Surv. Ophthalmol.
, vol.44
, pp. 479-506
-
-
Cassidy, L.1
Taylor, D.2
Harris, C.3
-
15
-
-
0014621358
-
Hereditary syndrome of congenital blindness (Leber), polycystic kidneys and maldevelopment of the brain
-
Dekaban AS. (1969) Hereditary syndrome of congenital blindness (Leber), polycystic kidneys and maldevelopment of the brain. Am J Ophthalmol 68: 1029-1036.
-
(1969)
Am. J. Ophthalmol.
, vol.68
, pp. 1029-1036
-
-
Dekaban, A.S.1
-
16
-
-
0027171824
-
On Saraiva & Baraitser and Joubert syndrome: A review
-
Di Rocco M. (1993) On Saraiva & Baraitser and Joubert syndrome: a review. Am J Med Genet 46: 732.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 732
-
-
Di Rocco, M.1
-
17
-
-
0021195651
-
Computed tomography in congenital ocular motor apraxia
-
Eda I, Taqkashima S, Kitahar T, Ohno K, Takeshita K. (1984) Computed tomography in congenital ocular motor apraxia. Neuroradiology 26: 359-362.
-
(1984)
Neuroradiology
, vol.26
, pp. 359-362
-
-
Eda, I.1
Taqkashima, S.2
Kitahar, T.3
Ohno, K.4
Takeshita, K.5
-
19
-
-
0031665059
-
Neurobehavioral development in Joubert syndrome
-
Gitten J, Dede D, Fennell E, Quisling R, Maria BL. (1998) Neurobehavioral development in Joubert syndrome. J Clin Neurol 13: 391-397.
-
(1998)
J. Clin. Neurol.
, vol.13
, pp. 391-397
-
-
Gitten, J.1
Dede, D.2
Fennell, E.3
Quisling, R.4
Maria, B.L.5
-
21
-
-
0000865780
-
Nystagmus and eye movement disorders
-
Taylor D, editor. Oxford: Blackwell Science
-
Harris CM. (1997) Nystagmus and eye movement disorders. In: Taylor D, editor. Paediatric Ophthalmology. Oxford: Blackwell Science. p 869-896.
-
(1997)
Paediatric Ophthalmology
, pp. 869-896
-
-
Harris, C.M.1
-
22
-
-
0031758392
-
Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia
-
Harris CM, Hodgkins PR, Kriss A, Chong WK, Thompson DA, Mezey LE, Shawkat FS, Taylor DSI, Wilson H. (1998) Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia. Dev Med Child Neurol 40: 775-779.
-
(1998)
Dev. Med. Child. Neurol.
, vol.40
, pp. 775-779
-
-
Harris, C.M.1
Hodgkins, P.R.2
Kriss, A.3
Chong, W.K.4
Thompson, D.A.5
Mezey, L.E.6
Shawkat, F.S.7
Taylor, D.S.I.8
Wilson, H.9
-
23
-
-
84907111095
-
The use of video in assessing and illustrating abnormal eye movements in young children
-
Harris CM, Kriss A, Shawkat F, Taylor D. (1992) The use of video in assessing and illustrating abnormal eye movements in young children. J Audiovis Media Med 15: 113-116.
-
(1992)
J. Audiovis. Media Med.
, vol.15
, pp. 113-116
-
-
Harris, C.M.1
Kriss, A.2
Shawkat, F.3
Taylor, D.4
-
24
-
-
0030064280
-
Intermittent horizontal saccade failure (ocular motor apraxia) in children
-
Harris CM, Shawkat FS, Russell-Eggitt I, Wilson J, Taylor D. (1996) Intermittent horizontal saccade failure (ocular motor apraxia) in children. Br J Ophthalmol 80: 151-158.
-
(1996)
Br. J. Ophthalmol.
, vol.80
, pp. 151-158
-
-
Harris, C.M.1
Shawkat, F.S.2
Russell-Eggitt, I.3
Wilson, J.4
Taylor, D.5
-
25
-
-
0021014366
-
Le syndrome de Joubert. Etude clinique et anatomopathologique. Hypotheses eteiopathogeniques
-
(Paris) (In French)
-
Harmant-van Rijckevorsel G, Aubert-Tulkens G, Moulin D, Lyons G. (1983) Le syndrome de Joubert. Etude clinique et anatomopathologique. Hypotheses eteiopathogeniques. Revue Neurol (Paris) 12: 715-724. (In French)
-
(1983)
Revue Neurol.
, vol.12
, pp. 715-724
-
-
Harmant-van Rijckevorsel, G.1
Aubert-Tulkens, G.2
Moulin, D.3
Lyons, G.4
-
26
-
-
0022895376
-
Joubert syndrome associated with unilateral ptosis and Leber's congenital amaurosis
-
Houdou S, Ohno K, Takashima S, Takeshita K. (1986) Joubert syndrome associated with unilateral ptosis and Leber's congenital amaurosis. Pediatr Neurol 2: 102-105.
-
(1986)
Pediatr. Neurol.
, vol.2
, pp. 102-105
-
-
Houdou, S.1
Ohno, K.2
Takashima, S.3
Takeshita, K.4
-
27
-
-
0026974866
-
The objective assessment of abnormal eye movements in infants and young children
-
Jacobs M, Harris CM, Shawkat F, Taylor D. (1992) The objective assessment of abnormal eye movements in infants and young children. Aust N Z J Ophthalmol 20: 185-195.
-
(1992)
Aust. N. Z. J. Ophthalmol.
, vol.20
, pp. 185-195
-
-
Jacobs, M.1
Harris, C.M.2
Shawkat, F.3
Taylor, D.4
-
28
-
-
0026771110
-
Joubert syndrome, ocular fibrosis and normal histidine levels
-
Jacobsen DM, Johnson R, Frens DB. (1992) Joubert syndrome, ocular fibrosis and normal histidine levels. Am J Ophthalmol 113: 714-716.
-
(1992)
Am. J. Ophthalmol.
, vol.113
, pp. 714-716
-
-
Jacobsen, D.M.1
Johnson, R.2
Frens, D.B.3
-
29
-
-
0031940523
-
Speech, cognition, and imaging studies in congenital ocular motor apraxia
-
Jan JE, Kearney S, Groenveld M, Sargent MA, Poskitt KJ. (1998) Speech, cognition, and imaging studies in congenital ocular motor apraxia. Dev Med Child Neurol 40: 95-99.
-
(1998)
Dev. Med. Child. Neurol.
, vol.40
, pp. 95-99
-
-
Jan, J.E.1
Kearney, S.2
Groenveld, M.3
Sargent, M.A.4
Poskitt, K.J.5
-
30
-
-
42049091561
-
Report of the committee on methods of clinical examinations in electroencephalography
-
Jasper HH. (1958) Report of the committee on methods of clinical examinations in electroencephalography. Electroencephalogr Clin Neurophysiol 10: 370-375.
-
(1958)
Electroencephalogr Clin. Neurophysiol.
, vol.10
, pp. 370-375
-
-
Jasper, H.H.1
-
32
-
-
0028545668
-
Joubert syndrome with polydactyly and chorioretinal coloboma
-
Kher AS, Chattopadhyay A, Divekar A, Khambekar K, Bharucha BA. (1994) Joubert syndrome with polydactyly and chorioretinal coloboma. Indian J Pediatr 61: 729-731.
-
(1994)
Indian J. Pediatr.
, vol.61
, pp. 729-731
-
-
Kher, A.S.1
Chattopadhyay, A.2
Divekar, A.3
Khambekar, K.4
Bharucha, B.A.5
-
33
-
-
0021149532
-
Joubert syndrome with retinal dysplasia. Neonatal tachypnoea as a clue to a genetic brain-eye malformation
-
King MD, Dudgeon J, Stephenson JBP. (1984) Joubert syndrome with retinal dysplasia. Neonatal tachypnoea as a clue to a genetic brain-eye malformation. Arch Dis Child 59: 709-718.
-
(1984)
Arch. Dis. Child.
, vol.59
, pp. 709-718
-
-
King, M.D.1
Dudgeon, J.2
Stephenson, J.B.P.3
-
34
-
-
0002171652
-
Visual electrophysiology
-
Taylor D, editor, Oxford: Blackwell Science
-
Kriss A, Thompson DA. (1997) Visual electrophysiology. In: Taylor D, editor, Paediatric Ophthalmology. Oxford: Blackwell Science. p 92-121.
-
(1997)
Paediatric Ophthalmology
, pp. 92-121
-
-
Kriss, A.1
Thompson, D.A.2
-
35
-
-
0024324284
-
Joubert syndrome
-
Lambert S, Kriss A, Gresty M, Benton S, Taylor D. (1989) Joubert syndrome. Arch Ophthalmol 107: 709-713.
-
(1989)
Arch. Ophthalmol.
, vol.107
, pp. 709-713
-
-
Lambert, S.1
Kriss, A.2
Gresty, M.3
Benton, S.4
Taylor, D.5
-
36
-
-
0021635496
-
Chorioretinal coloboma and Joubert syndrome. A non-random association
-
Laverda AM, Saia OS, Drigo P, Danieli E, Clementi M, Tenconi R. (1984) Chorioretinal coloboma and Joubert syndrome. A non-random association. J Pediatr 105: 282-284.
-
(1984)
J. Pediatr.
, vol.105
, pp. 282-284
-
-
Laverda, A.M.1
Saia, O.S.2
Drigo, P.3
Danieli, E.4
Clementi, M.5
Tenconi, R.6
-
37
-
-
51249193206
-
Über retinitis pigmentosa und angeborene amaurose
-
Leber T. (1969) Über retinitis pigmentosa und angeborene amaurose. Graefes Arch Clin Exp Ophthalmol 15: 1-25.
-
(1969)
Graefes Arch. Clin. Exp. Ophthalmol.
, vol.15
, pp. 1-25
-
-
Leber, T.1
-
38
-
-
0027982575
-
Joubert syndrome with congenital hepatic fibrosis: An entity in the spectrum of oculo-encephalohepato-renal disorders
-
Lewis SM, Roberts EA, Marcon MA, Harvey E, Phillips MJ, Chuang SA, Buncic JR, Clarke JT. (1994) Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalohepato-renal disorders. Am J Med Genetic 52: 419-426.
-
(1994)
Am. J. Med. Genetic
, vol.52
, pp. 419-426
-
-
Lewis, S.M.1
Roberts, E.A.2
Marcon, M.A.3
Harvey, E.4
Phillips, M.J.5
Chuang, S.A.6
Buncic, J.R.7
Clarke, J.T.8
-
39
-
-
0018932864
-
The Joubert syndrome associated with bilateral chorioretinal coloboma
-
Lindhout D, Barth PG, Valk J, Boen-Tan TN. (1980) The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 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
-
41
-
-
0344584814
-
The molar tooth sign
-
McGraw P (2003) The molar tooth sign. Radiology 229: 671-672.
-
(2003)
Radiology
, vol.229
, pp. 671-672
-
-
McGraw, P.1
-
42
-
-
0025635758
-
CHARGE and Joubert syndromes: Are they a single disorder?
-
Menenzes M, Coker SB. (1990) CHARGE and Joubert syndromes: are they a single disorder? Pediatr Neurol 6: 428-430.
-
(1990)
Pediatr. Neurol.
, vol.6
, pp. 428-430
-
-
Menenzes, M.1
Coker, S.B.2
-
43
-
-
4444246899
-
Recognition of the clinical signs and symptoms of Joubert Syndrome
-
Merritt L. (2003). Recognition of the clinical signs and symptoms of Joubert Syndrome. Adv Neonat Care 3: 178-188.
-
(2003)
Adv. Neonat. Care.
, vol.3
, pp. 178-188
-
-
Merritt, L.1
-
44
-
-
0021670824
-
A syndrome of congenital retinal dystrophy and saccade palsy - A subset of Leber's amaurosis
-
Moore AT, Taylor DS. (1984) A syndrome of congenital retinal dystrophy and saccade palsy - a subset of Leber's amaurosis. Br J Ophthalmol 68: 421-431.
-
(1984)
Br. J. Ophthalmol.
, vol.68
, pp. 421-431
-
-
Moore, A.T.1
Taylor, D.S.2
-
46
-
-
0033615477
-
Cerebello-oculo-renal syndromes including arima, senior loken and COACH syndromes: More than just variants of Joubert syndrome
-
Satran D, Pierpont ME, Dobyns WB. (1999) Cerebello-oculo-renal syndromes including arima, senior loken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet 86: 459-469.
-
(1999)
Am. J. Med. Genet.
, vol.86
, pp. 459-469
-
-
Satran, D.1
Pierpont, M.E.2
Dobyns, W.B.3
-
47
-
-
0028807091
-
Oculomotor and neuro-radiological correlates in children with ocular motor apraxia
-
Shawkat FS, Kingsley D, Kendall B, Russell-Eggitt I, Taylor D, Harris C. (1995) Oculomotor and neuro-radiological correlates in children with ocular motor apraxia. Neuropediatrics 26: 298-305.
-
(1995)
Neuropediatrics
, vol.26
, pp. 298-305
-
-
Shawkat, F.S.1
Kingsley, D.2
Kendall, B.3
Russell-Eggitt, I.4
Taylor, D.5
Harris, C.6
-
48
-
-
0027527244
-
Orofacial digital syndrome type III in two sibs
-
Smith RA, Gardner-Medwin D. (1993) Orofacial digital syndrome type III in two sibs. J Med Genet 30: 870-872.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 870-872
-
-
Smith, R.A.1
Gardner-Medwin, D.2
-
50
-
-
0018736040
-
Joubert syndrome associated with Leber's congenital amaurosis
-
Tomita H, Ohno K, Tamai A. (1979) Joubert syndrome associated with Leber's congenital amaurosis. Brain Dev 11: 459-465.
-
(1979)
Brain Dev.
, vol.11
, pp. 459-465
-
-
Tomita, H.1
Ohno, K.2
Tamai, A.3
-
51
-
-
0031763520
-
Coexistence of Gaucher disease type 1 and Joubert syndrome
-
van Royen-Kerkhof A, Poll-The BT, Kleijer WJ, van Digglen OP, Aerts JM, Hopwood JJ, Beemer FA. (1998) Coexistence of Gaucher disease type 1 and Joubert syndrome. J Med Genet 35: 965-966.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 965-966
-
-
van Royen-Kerkhof, A.1
Poll-The, B.T.2
Kleijer, W.J.3
van Digglen, O.P.4
Aerts, J.M.5
Hopwood, J.J.6
Beemer, F.A.7
-
54
-
-
0025055305
-
Hidden intelligence of a multiply handicapped child with Joubert syndrome
-
Zeigler AL, Deonna T, Calame A. (1990) Hidden intelligence of a multiply handicapped child with Joubert syndrome. Dev Med Child Neurol 32: 261-266.
-
(1990)
Dev. Med. Child. Neurol.
, vol.32
, pp. 261-266
-
-
Zeigler, A.L.1
Deonna, T.2
Calame, A.3
|