-
2
-
-
0024566720
-
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia
-
Appleton, R.E., D. Chitayat, J. E. Jan, R. Kennedy, J. G. Hall: Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. Arch. Neurol. 46 (1989) 579-582
-
(1989)
Arch. Neurol.
, vol.46
, pp. 579-582
-
-
Appleton, R.E.1
Chitayat, D.2
Jan, J.E.3
Kennedy, R.4
Hall, J.G.5
-
3
-
-
0017577011
-
Joubert syndrome: Episodic hyperpnoea, abnormal eye movements, retardation and ataxia, associated with dysplasia or the cerebellar vermis
-
Boltshauser, E., W. Isler: Joubert syndrome: episodic hyperpnoea, abnormal eye movements, retardation and ataxia, associated with dysplasia or the cerebellar vermis. Neuropädiatrie 8 (1977) 57-66
-
(1977)
Neuropädiatrie
, vol.8
, pp. 57-66
-
-
Boltshauser, E.1
Isler, W.2
-
4
-
-
0019421986
-
Joubert syndrome: Clinical and polygraphic observations in a further case
-
Boltshauser, E., M. Herdan, G. Dummermuth, W. Isler: Joubert syndrome: Clinical and polygraphic observations in a further case. Neuropediatrics 12 (1981) 181-191
-
(1981)
Neuropediatrics
, vol.12
, pp. 181-191
-
-
Boltshauser, E.1
Herdan, M.2
Dummermuth, G.3
Isler, W.4
-
5
-
-
0025265499
-
Le syndrome de Joubert
-
Paris
-
Buissoniere, R. F., V. Storni, O. Robain, G. Ponsot: Le syndrome de Joubert. Ann. Pédiatr. (Paris) 37 (1990) 151-156
-
(1990)
Ann. Pédiatr.
, vol.37
, pp. 151-156
-
-
Buissoniere, R.F.1
Storni, V.2
Robain, O.3
Ponsot, G.4
-
6
-
-
0019314076
-
Sindrome di Joubert, contributo clinico
-
Burroni, M., F. Perrotta, V. Rossolini: Sindrome di Joubert, contributo clinico. Minerva Pediatr. 32 (1980) 763-766
-
(1980)
Minerva Pediatr.
, vol.32
, pp. 763-766
-
-
Burroni, M.1
Perrotta, F.2
Rossolini, V.3
-
7
-
-
0017746422
-
Vermian agenesis and unsegmented midbrain tectum
-
Calogero, J. A.: Vermian agenesis and unsegmented midbrain tectum. J. Neurosurg. 47 (1977) 605-608
-
(1977)
J. Neurosurg.
, vol.47
, pp. 605-608
-
-
Calogero, J.A.1
-
8
-
-
0021685295
-
The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis
-
Campbell, S., C. Tsannatos, J. M. Pearce: The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis. Prenat. Diagn. 4 (1984) 391-395
-
(1984)
Prenat. Diagn.
, vol.4
, pp. 391-395
-
-
Campbell, S.1
Tsannatos, C.2
Pearce, J.M.3
-
9
-
-
0021927379
-
Variability of outcome in Joubert syndrome
-
Casaer, P., J. S. H. Vles, H. Devlieger, E. Eggermont, M. Boel: Variability of outcome in Joubert syndrome. Neuropediatrics 16 (1985) 43-45
-
(1985)
Neuropediatrics
, vol.16
, pp. 43-45
-
-
Casaer, P.1
Vles, J.S.H.2
Devlieger, H.3
Eggermont, E.4
Boel, M.5
-
10
-
-
0018860478
-
Joubert syndrome: A case confirmed by computerized tomography
-
Curatolo, P., S. Mercuri, E. Cotroneo: Joubert syndrome: a case confirmed by computerized tomography. Dev. Med. Child Neurol. 22 (1980) 362-378
-
(1980)
Dev. Med. Child Neurol.
, vol.22
, pp. 362-378
-
-
Curatolo, P.1
Mercuri, S.2
Cotroneo, E.3
-
11
-
-
9844265741
-
Joubert syndrome - Beobachtungen an 2 Patienten
-
Da Silva, V., E. Boltshauser, B. Lange, E. Gugler: Joubert syndrome - Beobachtungen an 2 Patienten. Helv. Paediatr. Acta 39 Suppl. 50 (1984) 3
-
(1984)
Helv. Paediatr. Acta
, vol.39
, Issue.50 SUPPL.
, pp. 3
-
-
Da Silva, V.1
Boltshauser, E.2
Lange, B.3
Gugler, E.4
-
12
-
-
0018330384
-
Zusammenhänge zwischen Atemregulation und paradoxem Schlaf bei einem Patienten mit Joubert-Syndrom
-
Dralle, D., E. Schmidt-Sommerfeld: Zusammenhänge zwischen Atemregulation und paradoxem Schlaf bei einem Patienten mit Joubert-Syndrom. Klin. Paediatr. 191 (1979) 83-90
-
(1979)
Klin. Paediatr.
, vol.191
, pp. 83-90
-
-
Dralle, D.1
Schmidt-Sommerfeld, E.2
-
13
-
-
0023804461
-
Joubert syndrome: Early diagnosis by recognition of the behavioural phenotype and confirmation by cranial sonography
-
Edwards, B. O., A. Q. Fischer, D. B. Flannery: Joubert syndrome: Early diagnosis by recognition of the behavioural phenotype and confirmation by cranial sonography. J. Child Neurol. 3 (1988) 247-249
-
(1988)
J. Child Neurol.
, vol.3
, pp. 247-249
-
-
Edwards, B.O.1
Fischer, A.Q.2
Flannery, D.B.3
-
14
-
-
0019948581
-
Joubert-Boltshauser syndrome with polydactyly in siblings
-
Egger, J., M. H. Bellman, E. M. Ross, M. Baraitser: Joubert-Boltshauser syndrome with polydactyly in siblings. J. Neurol. Neurosurg. Psychiatry 45 (1982) 737-739
-
(1982)
J. Neurol. Neurosurg. Psychiatry
, vol.45
, pp. 737-739
-
-
Egger, J.1
Bellman, M.H.2
Ross, E.M.3
Baraitser, M.4
-
15
-
-
0018723548
-
Sindrome de Joubert - A proposito de un caso
-
Madr
-
Fernandez, C. C., T. R. Costa, J. S. Perez, B. R. Janer, F. R. Lopez: Sindrome de Joubert - a proposito de un caso. Arch. Neurobiol. (Madr) 42 (1979) 299-308
-
(1979)
Arch. Neurobiol.
, vol.42
, pp. 299-308
-
-
Fernandez, C.C.1
Costa, T.R.2
Perez, J.S.3
Janer, B.R.4
Lopez, F.R.5
-
16
-
-
0018079385
-
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome
-
Friede, R. L., E. Boltshauser: Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev. Med. Child Neurol. 20 (1978) 758-763
-
(1978)
Dev. Med. Child Neurol.
, vol.20
, pp. 758-763
-
-
Friede, R.L.1
Boltshauser, E.2
-
17
-
-
0021014366
-
Le syndrome de Joubert. Etude clinique et anatomopathologique. Hypothèses étiopathogéniques
-
Paris
-
Hartmant-van Rijckevorsel, G., G. Aubert-Tulkens, D. Moulin, G. Lyon: Le syndrome de Joubert. Etude clinique et anatomopathologique. Hypothèses étiopathogéniques. Rev. Neurol. (Paris) 12 (1983) 715-724
-
(1983)
Rev. Neurol.
, vol.12
, pp. 715-724
-
-
Hartmant-van Rijckevorsel, G.1
Aubert-Tulkens, G.2
Moulin, D.3
Lyon, G.4
-
18
-
-
0025777864
-
Autistic features in Joubert syndrome: A genetic disorder with agenesis of the cerebellar vermis
-
Holroyd, S., A. L. Reiss, R. N. Bryan: Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. Biol. Psychiatry 29 (1991) 287-294
-
(1991)
Biol. Psychiatry
, vol.29
, pp. 287-294
-
-
Holroyd, S.1
Reiss, A.L.2
Bryan, R.N.3
-
19
-
-
0022895376
-
Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis
-
Houdou, S., K. Ohno, S. Takashima, K. Takeshita: Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis. Pediatr. Neurol. 2 (1986) 102-105
-
(1986)
Pediatr. Neurol.
, vol.2
, pp. 102-105
-
-
Houdou, S.1
Ohno, K.2
Takashima, S.3
Takeshita, K.4
-
20
-
-
0027458866
-
Joubert syndrome associated with Leber amaurosis and multicystic kidneys
-
Ivarsson, S. A., I. Bjerre, A. Brun, O. Ljungberg, E. Maly, I. Taylor: Joubert syndrome associated with Leber amaurosis and multicystic kidneys. Am. J. Med. Genet. 45 (1993) 542-547
-
(1993)
Am. J. Med. Genet.
, vol.45
, pp. 542-547
-
-
Ivarsson, S.A.1
Bjerre, I.2
Brun, A.3
Ljungberg, O.4
Maly, E.5
Taylor, I.6
-
21
-
-
0014572497
-
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation
-
Joubert, M., J.-J. Eisenring, J. P. Robb, F. Andermann: Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology 19 (1969) 813-815
-
(1969)
Neurology
, vol.19
, pp. 813-815
-
-
Joubert, M.1
Eisenring, J.-J.2
Robb, J.P.3
Andermann, F.4
-
22
-
-
0024784290
-
Joubert syndrome: A clinico-radiological study
-
Kendall, B., D. Kingsley, S. R. Lambert, D. Taylor, P. Finn: Joubert syndrome: a clinico-radiological study. Neuroradiology 31 (1990) 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
-
23
-
-
0021149532
-
Joubert's syndrome with retinal dysplasia: Neonatal tachypnea as the clue to a genetic brain-eye malformation
-
King, M. D., J. Dudgeon, J. B. P. Stephenson: Joubert's syndrome with retinal dysplasia: neonatal tachypnea as the clue to a genetic brain-eye malformation. Arch. Dis. Child. 59 (1984) 709-718
-
(1984)
Arch. Dis. Child.
, vol.59
, pp. 709-718
-
-
King, M.D.1
Dudgeon, J.2
Stephenson, J.B.P.3
-
24
-
-
0024324284
-
Joubert syndrome
-
Lambert, S. R., A. Kriss, M. Gresty, S. Benton, D. Taylor: Joubert syndrome. Arch. Ophthalmol. 107 (1989) 709-713
-
(1989)
Arch. Ophthalmol.
, vol.107
, pp. 709-713
-
-
Lambert, S.R.1
Kriss, A.2
Gresty, M.3
Benton, S.4
Taylor, D.5
-
25
-
-
0021635496
-
Chorioretinal coloboma and Joubert syndrome: A non random association
-
Laverda, A. M., D. S. Saia, P. Drigo, E. Danieli, M. Clementi, R. Tenconi: Chorioretinal coloboma and Joubert syndrome: a non random association. J. Pediatr. 105 (1984) 282-284
-
(1984)
J. Pediatr.
, vol.105
, pp. 282-284
-
-
Laverda, A.M.1
Saia, D.S.2
Drigo, P.3
Danieli, E.4
Clementi, M.5
Tenconi, R.6
-
26
-
-
0018932864
-
The Joubert syndrome associated with bilateral chorioretinal coloboma
-
Lindhout, D., P. G. Barth, J. Valk, T. N. Boen-Tan: The Joubert syndrome associated with bilateral chorioretinal coloboma. Europ. J. Pediatr. 134 (1980) 173-176
-
(1980)
Europ. J. Pediatr.
, vol.134
, pp. 173-176
-
-
Lindhout, D.1
Barth, P.G.2
Valk, J.3
Boen-Tan, T.N.4
-
27
-
-
1542281505
-
Joubert syndrome revisited: Key ocular motor signs with MRI correlation
-
Maria, B. L., R. J. Tusa, K. B. N. Hoang, A. A. Mancuso, L. M. Hamed, R. G. Quisling et al: Joubert syndrome revisited: Key ocular motor signs with MRI correlation. Ann. Neurol. 38 (1995) 515
-
(1995)
Ann. Neurol.
, vol.38
, pp. 515
-
-
Maria, B.L.1
Tusa, R.J.2
Hoang, K.B.N.3
Mancuso, A.A.4
Hamed, L.M.5
Quisling, R.G.6
-
28
-
-
0019142640
-
Sindrome di Joubert. Estudio de un nuevo caso y revisión de la literatura
-
Meix, J. M. A., I. Pascual-Castroviejo: Sindrome di Joubert. Estudio de un nuevo caso y revisión de la literatura. An. Esp. Pediatr. 13 (1980) 625-632
-
(1980)
An. Esp. Pediatr.
, vol.13
, pp. 625-632
-
-
Meix, J.M.A.1
Pascual-Castroviejo, I.2
-
29
-
-
0015956647
-
Nosology of congenital non-progressive cerebellar ataxia: Report on six cases in three families
-
Pfeiffer, R. A., D. Palm, G. J. Mann: Nosology of congenital non-progressive cerebellar ataxia: Report on six cases in three families. Neuropaediatrie 5 (1974) 91-102
-
(1974)
Neuropaediatrie
, vol.5
, pp. 91-102
-
-
Pfeiffer, R.A.1
Palm, D.2
Mann, G.J.3
-
30
-
-
9844249728
-
Sindrome di Joubert - Descrizione in due fratelli
-
Rossi, A., R. Sangermani, C. Zuccarini, L. Dellafiori: Sindrome di Joubert - descrizione in due fratelli. Ric. Ital. Ped. 14 (1988) 435-437
-
(1988)
Ric. Ital. Ped.
, vol.14
, pp. 435-437
-
-
Rossi, A.1
Sangermani, R.2
Zuccarini, C.3
Dellafiori, L.4
-
31
-
-
0011975616
-
Defectos vermianos; retraso mental; movimientos anormales y alteraciones del ritmo respiratorio
-
Spain
-
Santolaya, J. M., I. Pascual-Castroviejo: Defectos vermianos; retraso mental; movimientos anormales y alteraciones del ritmo respiratorio. Rev. Neurol. (Spain) 4 (1974) 15-24
-
(1974)
Rev. Neurol.
, vol.4
, pp. 15-24
-
-
Santolaya, J.M.1
Pascual-Castroviejo, I.2
-
33
-
-
0028371140
-
MRI of Joubert syndrome
-
Shen, W. C., W. J. Shian, C. C. Chen, C. S. Chi, S. K. Lee, K. R. Lee: MRI of Joubert syndrome. Eur. J. Radiol. 18 (1994) 30-33
-
(1994)
Eur. J. Radiol.
, vol.18
, pp. 30-33
-
-
Shen, W.C.1
Shian, W.J.2
Chen, C.C.3
Chi, C.S.4
Lee, S.K.5
Lee, K.R.6
-
34
-
-
0026324546
-
Dysmorphic features of Joubert syndrome
-
Squires, L. A., G. Raymond, A. M. Neumeyer, K. S. Krishnamoorthy, M. L. Buyse: Dysmorphic features of Joubert syndrome. Dysmorphol. Clin. Genet. 5 (3) (1991) 72-77
-
(1991)
Dysmorphol. Clin. Genet.
, vol.5
, Issue.3
, pp. 72-77
-
-
Squires, L.A.1
Raymond, G.2
Neumeyer, A.M.3
Krishnamoorthy, K.S.4
Buyse, M.L.5
-
35
-
-
0028000715
-
Joubert-Syndrom in Kombination mit einseitiger Facialisparese: Eine seltene Variante des Joubert-Syndroms
-
Stute, M., H. C. Toedt, B. Schlueter, H. Pahl, U. Oelschlaeger: Joubert-Syndrom in Kombination mit einseitiger Facialisparese: eine seltene Variante des Joubert-Syndroms. Klin. Paediatr. 206 (1994) 397-401
-
(1994)
Klin. Paediatr.
, vol.206
, pp. 397-401
-
-
Stute, M.1
Toedt, H.C.2
Schlueter, B.3
Pahl, H.4
Oelschlaeger, U.5
-
36
-
-
0018736040
-
Joubert syndrome associated with Leber's congenital amaurosis
-
Tomito, H., K. Ohno, A. Tamai: Joubert syndrome associated with Leber's congenital amaurosis. Brain. Dev. 11 (1979) 459-465
-
(1979)
Brain. Dev.
, vol.11
, pp. 459-465
-
-
Tomito, H.1
Ohno, K.2
Tamai, A.3
-
37
-
-
0025880516
-
Joubert syndrome: A clinical and pathological description of an affected male and female fetus from the same sibship
-
van Dorp, D. B., A. Palan, M. L. Kwee, P. G. Barth, J. J. van der Harten: Joubert syndrome: a clinical and pathological description of an affected male and female fetus from the same sibship. Am. J. Med. Genet. 40 (1991) 100-104
-
(1991)
Am. J. Med. Genet.
, vol.40
, pp. 100-104
-
-
Van Dorp, D.B.1
Palan, A.2
Kwee, M.L.3
Barth, P.G.4
Van Der Harten, J.J.5
-
38
-
-
0025055305
-
Hidden intelligence of a multiply handicapped child with Joubert syndrome
-
Ziegler, A.-L., T. Deonna, A. Calame: Hidden intelligence of a multiply handicapped child with Joubert syndrome. Dev. Med. Child Neurol. 32 (1990) 261-266
-
(1990)
Dev. Med. Child Neurol.
, vol.32
, pp. 261-266
-
-
Ziegler, A.-L.1
Deonna, T.2
Calame, A.3
|