-
1
-
-
0041570128
-
110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002
-
Gutowski NJ, Bosley TM, Engle EC. 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. Neuromuscul Disord 2003;13:573-578.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 573-578
-
-
Gutowski, N.J.1
Bosley, T.M.2
Engle, E.C.3
-
3
-
-
17944386587
-
Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging
-
Parsa CF, Grant E, Dillon WP Jr, et al. Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging. Am J Ophthalmol 1998;125:399-401.
-
(1998)
Am J Ophthalmol
, vol.125
, pp. 399-401
-
-
Parsa, C.F.1
Grant, E.2
Dillon Jr., W.P.3
-
4
-
-
0019972076
-
Unilateral Duane's retraction syndrome (type 1)
-
Miller NR, Kiel SM, Green WR, et al. Unilateral Duane's retraction syndrome (type 1). Arch Ophthalmol 1982;100:1468-1472.
-
(1982)
Arch Ophthalmol
, vol.100
, pp. 1468-1472
-
-
Miller, N.R.1
Kiel, S.M.2
Green, W.R.3
-
5
-
-
0018893694
-
Bilateral Duane's retraction syndrome. A clinical-pathologic case report
-
Hotchkiss MG, Miller NR, Clark AW, et al. Bilateral Duane's retraction syndrome. A clinical-pathologic case report. Arch Ophthalmol 1980;98:870-874.
-
(1980)
Arch Ophthalmol
, vol.98
, pp. 870-874
-
-
Hotchkiss, M.G.1
Miller, N.R.2
Clark, A.W.3
-
6
-
-
0031887126
-
Brainstem hypoplasia in the Wildervanck (cervico-oculo-acoustic) syndrome
-
Brodsky MC, Fray KJ. Brainstem hypoplasia in the Wildervanck (cervico-oculo-acoustic) syndrome. Arch Ophthalmol 1998;116:383-385.
-
(1998)
Arch Ophthalmol
, vol.116
, pp. 383-385
-
-
Brodsky, M.C.1
Fray, K.J.2
-
7
-
-
0028168147
-
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12
-
Engle EC, Kunkel LM, Specht LA, et al. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet 1994;7:69-73.
-
(1994)
Nat Genet
, vol.7
, pp. 69-73
-
-
Engle, E.C.1
Kunkel, L.M.2
Specht, L.A.3
-
8
-
-
0028784357
-
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement, and physical mapping on chromosome 12
-
Engle EC, Marondel I, Houtman WA, et al. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet 1995;57:1086-1094.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1086-1094
-
-
Engle, E.C.1
Marondel, I.2
Houtman, W.A.3
-
9
-
-
0031058836
-
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
-
Engle EC, Goumnerov BC, McKeown CA, et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 1997;41:314-325.
-
(1997)
Ann Neurol
, vol.41
, pp. 314-325
-
-
Engle, E.C.1
Goumnerov, B.C.2
McKeown, C.A.3
-
10
-
-
0030895262
-
A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1
-
Engle EC, Castro AE, Macy ME, et al. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Am J Hum Genet 1997;60:1150-1157.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1150-1157
-
-
Engle, E.C.1
Castro, A.E.2
Macy, M.E.3
-
11
-
-
0032231607
-
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13
-
Wang SM, Zwaan J, Mullaney PB, et al. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet 1998;63:517-525.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 517-525
-
-
Wang, S.M.1
Zwaan, J.2
Mullaney, P.B.3
-
12
-
-
0032991253
-
CFEOM3: A new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3
-
Doherty EJ, Macy ME, Wang SM, et al. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci 1999;40:1687-1694.
-
(1999)
Invest Ophthalmol Vis Sci
, vol.40
, pp. 1687-1694
-
-
Doherty, E.J.1
Macy, M.E.2
Wang, S.M.3
-
13
-
-
0033900167
-
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12
-
Sener EC, Lee BA, Turgut B, et al. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophthalmol 2000;118:1090-1097.
-
(2000)
Arch Ophthalmol
, vol.118
, pp. 1090-1097
-
-
Sener, E.C.1
Lee, B.A.2
Turgut, B.3
-
14
-
-
0034085924
-
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles
-
Traboulsi EI, Lee BA, Mousawi A, et al. Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. Am J Ophthalmol 2000;129:658-662.
-
(2000)
Am J Ophthalmol
, vol.129
, pp. 658-662
-
-
Traboulsi, E.I.1
Lee, B.A.2
Mousawi, A.3
-
15
-
-
0035179560
-
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
-
Nakano M, Yamada K, Fain J, et al. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 2001;29:315-320.
-
(2001)
Nat Genet
, vol.29
, pp. 315-320
-
-
Nakano, M.1
Yamada, K.2
Fain, J.3
-
16
-
-
0034971195
-
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia
-
Flaherty MP, Grattan-Smith P, Steinberg A, et al. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology 2001;108:1313-1322.
-
(2001)
Ophthalmology
, vol.108
, pp. 1313-1322
-
-
Flaherty, M.P.1
Grattan-Smith, P.2
Steinberg, A.3
-
17
-
-
18644369102
-
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
-
Al-Baradie R, Yamada K, St Hilaire C, et al. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 2002;71:1195-1199.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1195-1199
-
-
Al-Baradie, R.1
Yamada, K.2
St Hilaire, C.3
-
18
-
-
0036403844
-
The molecular basis of the congenital fibrosis syndromes
-
Engle EC. The molecular basis of the congenital fibrosis syndromes. Strabismus 2002;10:125-128.
-
(2002)
Strabismus
, vol.10
, pp. 125-128
-
-
Engle, E.C.1
-
19
-
-
0036234298
-
Applications of molecular genetics to the understanding of congenital ocular motility disorders
-
Engle EC. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann N Y Acad Sci 2002;956:55-63.
-
(2002)
Ann N Y Acad Sci
, vol.956
, pp. 55-63
-
-
Engle, E.C.1
-
20
-
-
18744378900
-
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX
-
Engle EC, McIntosh N, Yamada K, et al. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet 2002;3:3.
-
(2002)
BMC Genet
, vol.3
, pp. 3
-
-
Engle, E.C.1
McIntosh, N.2
Yamada, K.3
-
21
-
-
0036742057
-
Elevation of one eye during tooth brushing
-
Gottlob I, Jain S, Engle EC. Elevation of one eye during tooth brushing. Am J Ophthalmol 2002;134:459-460.
-
(2002)
Am J Ophthalmol
, vol.134
, pp. 459-460
-
-
Gottlob, I.1
Jain, S.2
Engle, E.C.3
-
22
-
-
0036590031
-
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
-
Mackey DA, Chan WM, Chan C, et al. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet 2002;110:510-512.
-
(2002)
Hum Genet
, vol.110
, pp. 510-512
-
-
Mackey, D.A.1
Chan, W.M.2
Chan, C.3
-
23
-
-
0042563041
-
Congenital fibrosis syndrome associated with central nervous system abnormalities
-
Pieh C, Goebel HH, Engle EC, et al. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Arch Clin Exp Ophthalmol 2003;241:546-553.
-
(2003)
Graefes Arch Clin Exp Ophthalmol
, vol.241
, pp. 546-553
-
-
Pieh, C.1
Goebel, H.H.2
Engle, E.C.3
-
24
-
-
0142195766
-
A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2)
-
Yazdani A, Chung DC, Abbaszadegan MR, et al. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol 2003;136:861-865.
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 861-865
-
-
Yazdani, A.1
Chung, D.C.2
Abbaszadegan, M.R.3
-
25
-
-
0344826532
-
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
-
Yamada K, Andrews C, Chan WM, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 2003;35:318-321.
-
(2003)
Nat Genet
, vol.35
, pp. 318-321
-
-
Yamada, K.1
Andrews, C.2
Chan, W.M.3
-
26
-
-
0041663565
-
A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region
-
Uyama E, Yamada K, Kawano H, et al. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscul Disord 2003;13:472-478.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 472-478
-
-
Uyama, E.1
Yamada, K.2
Kawano, H.3
-
28
-
-
0025528553
-
Bilateral Duane syndrome associated with hypogonadotropic hypogonadism and anosmia (Kallmann syndrome)
-
Cordonnier M, Hanozet V, Van Nechel C, et al. [Bilateral Duane syndrome associated with hypogonadotropic hypogonadism and anosmia (Kallmann syndrome)]. Bull Soc Belge Ophtalmol 1990;239:29-35.
-
(1990)
Bull Soc Belge Ophtalmol
, vol.239
, pp. 29-35
-
-
Cordonnier, M.1
Hanozet, V.2
Van Nechel, C.3
-
29
-
-
0018838610
-
Duane's retraction syndrome associated with optic nerve hypoplasia
-
Denslow GT, Sims M. Duane's retraction syndrome associated with optic nerve hypoplasia. J Pediatr Ophthalmol Strabismus 1980;17:26-28.
-
(1980)
J Pediatr Ophthalmol Strabismus
, vol.17
, pp. 26-28
-
-
Denslow, G.T.1
Sims, M.2
-
30
-
-
0021039293
-
Marcus Gunn jaw winking and Duane's retraction syndrome
-
Isenberg S, Blechman B. Marcus Gunn jaw winking and Duane's retraction syndrome. J Pediatr Ophthalmol Strabismus 1983;20:235-237.
-
(1983)
J Pediatr Ophthalmol Strabismus
, vol.20
, pp. 235-237
-
-
Isenberg, S.1
Blechman, B.2
-
31
-
-
0342278255
-
Congenital paradoxical gustatorylacrimal reflex and lateral rectus paralysis. Case report
-
Jampel RS, Titone C. Congenital paradoxical gustatorylacrimal reflex and lateral rectus paralysis. Case report. Arch Ophthalmol 1962;67:123-126.
-
(1962)
Arch Ophthalmol
, vol.67
, pp. 123-126
-
-
Jampel, R.S.1
Titone, C.2
-
32
-
-
0025173937
-
Auditory function in Duane's retraction syndrome
-
Ro A, Chernoff G, MacRae D, et al. Auditory function in Duane's retraction syndrome. Am J Ophthalmol 1990;109:75-78.
-
(1990)
Am J Ophthalmol
, vol.109
, pp. 75-78
-
-
Ro, A.1
Chernoff, G.2
MacRae, D.3
-
33
-
-
0021245035
-
Congenital horizontal gaze paralysis and ear dysplasia in a boy with Duane's retraction syndrome and seventh nerve palsy
-
Saraux H, Laroche L, Lacombe H. Congenital horizontal gaze paralysis and ear dysplasia in a boy with Duane's retraction syndrome and seventh nerve palsy. Ophthalmologica 1984;188:208-211.
-
(1984)
Ophthalmologica
, vol.188
, pp. 208-211
-
-
Saraux, H.1
Laroche, L.2
Lacombe, H.3
-
34
-
-
0032240004
-
Mobius syndrome with oculomotor nerve paralysis without abducens paralysis
-
Tran DB, Wilson MC, Fox CA, et al. Mobius syndrome with oculomotor nerve paralysis without abducens paralysis. J Neuroophthalmol 1998;18:281-283.
-
(1998)
J Neuroophthalmol
, vol.18
, pp. 281-283
-
-
Tran, D.B.1
Wilson, M.C.2
Fox, C.A.3
-
36
-
-
0036848353
-
Okihiro syndrome is caused by SALL4 mutations
-
Kohlhase J, Heinrich M, Schubert L, et al. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 2002;11:2979-2987.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2979-2987
-
-
Kohlhase, J.1
Heinrich, M.2
Schubert, L.3
-
37
-
-
0037488242
-
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
-
Kohlhase J, Schubert L, Liebers M, et al. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet 2003;40:473-478.
-
(2003)
J Med Genet
, vol.40
, pp. 473-478
-
-
Kohlhase, J.1
Schubert, L.2
Liebers, M.3
-
38
-
-
0036897232
-
Developmental neurogenetics and neuroophthalmology
-
Bennett JL. Developmental neurogenetics and neuroophthalmology. J Neuroophthalmol 2002;22:286-296.
-
(2002)
J Neuroophthalmol
, vol.22
, pp. 286-296
-
-
Bennett, J.L.1
-
39
-
-
0030818548
-
Pax-6 is involved in the specification of hindbrain motor neuron subtype
-
Osumi N, Hirota A, Ohuchi H, et al. Pax-6 is involved in the specification of hindbrain motor neuron subtype. Development 1997;124:2961-2972.
-
(1997)
Development
, vol.124
, pp. 2961-2972
-
-
Osumi, N.1
Hirota, A.2
Ohuchi, H.3
-
40
-
-
0036333291
-
Pax6 regulates specification of ventral neurone subtypes in the hindbrain by establishing progenitor domains
-
Takahashi M, Osumi N. Pax6 regulates specification of ventral neurone subtypes in the hindbrain by establishing progenitor domains. Development 2002;129:1327-1338.
-
(2002)
Development
, vol.129
, pp. 1327-1338
-
-
Takahashi, M.1
Osumi, N.2
-
41
-
-
0034053353
-
Control of hindbrain motor neuron differentiation by the homeobox gene Phox2b
-
Pattyn A, Hirsch M, Goridis C, et al. Control of hindbrain motor neuron differentiation by the homeobox gene Phox2b. Development 2000;127:1349-1358.
-
(2000)
Development
, vol.127
, pp. 1349-1358
-
-
Pattyn, A.1
Hirsch, M.2
Goridis, C.3
-
42
-
-
0030731439
-
Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis
-
Pattyn A, Morin X, Cremer H, et al. Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development 1997;124:4065-4075.
-
(1997)
Development
, vol.124
, pp. 4065-4075
-
-
Pattyn, A.1
Morin, X.2
Cremer, H.3
-
43
-
-
0025938481
-
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
-
Franco B, Guioli S, Pragliola A, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991;353:529-536.
-
(1991)
Nature
, vol.353
, pp. 529-536
-
-
Franco, B.1
Guioli, S.2
Pragliola, A.3
-
44
-
-
0025940669
-
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
-
Legouis R, Hardelin JP, Levilliers J, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991;67:423-435.
-
(1991)
Cell
, vol.67
, pp. 423-435
-
-
Legouis, R.1
Hardelin, J.P.2
Levilliers, J.3
-
45
-
-
0026876196
-
The gene for X-linked Kallmann syndrome: A human neuronal migration defect
-
Ballabio A, Camerino G. The gene for X-linked Kallmann syndrome: a human neuronal migration defect. Curr Opin Genet Dev 1992;2:417-421.
-
(1992)
Curr Opin Genet Dev
, vol.2
, pp. 417-421
-
-
Ballabio, A.1
Camerino, G.2
-
46
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dode C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003;33:463-465.
-
(2003)
Nat Genet
, vol.33
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
-
48
-
-
0035165103
-
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
-
Thomas PQ, Dattani MT, Brickman JM, et al. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 2001;10:39-45.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 39-45
-
-
Thomas, P.Q.1
Dattani, M.T.2
Brickman, J.M.3
-
49
-
-
17344362762
-
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
-
Dattani MT, Martinez-Barbera JP, Thomas PQ, et al. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998;19:125-133.
-
(1998)
Nat Genet
, vol.19
, pp. 125-133
-
-
Dattani, M.T.1
Martinez-Barbera, J.P.2
Thomas, P.Q.3
-
50
-
-
0038353669
-
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations
-
Azuma N, Yamaguchi Y, Handa H, et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 2003;72:1565-1570.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1565-1570
-
-
Azuma, N.1
Yamaguchi, Y.2
Handa, H.3
-
51
-
-
0033911791
-
A novel X-linked dominant condition: X-linked congenital isolated ptosis
-
McMullan TF, Collins AR, Tyers AG, et al. A novel X-linked dominant condition: X-linked congenital isolated ptosis. Am J Hum Genet 2000;66:1455-1460.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1455-1460
-
-
McMullan, T.F.1
Collins, A.R.2
Tyers, A.G.3
-
53
-
-
0021957735
-
Familial congenital fourth cranial nerve palsy
-
Astle WF, Rosenbaum AL. Familial congenital fourth cranial nerve palsy. Arch Ophthalmol 1985;103:532-535.
-
(1985)
Arch Ophthalmol
, vol.103
, pp. 532-535
-
-
Astle, W.F.1
Rosenbaum, A.L.2
-
56
-
-
0037072250
-
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
-
Jen J, Coulin CJ, Bosley TM, et al. Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology 2002;59:432-435.
-
(2002)
Neurology
, vol.59
, pp. 432-435
-
-
Jen, J.1
Coulin, C.J.2
Bosley, T.M.3
-
57
-
-
0024358727
-
Familial congenital facial diplegia: Electrophysiologic and genetic studies
-
Garcia Erro MI, Correale J, Arberas C, et al. Familial congenital facial diplegia: electrophysiologic and genetic studies. Pediatr Neurol 1989;5:262-264.
-
(1989)
Pediatr Neurol
, vol.5
, pp. 262-264
-
-
Garcia Erro, M.I.1
Correale, J.2
Arberas, C.3
-
58
-
-
0026026924
-
Oculofacialbulbar palsy in mother and son: Review of 26 reports of familial transmission within the 'Mobius spectrum of defects'
-
MacDermot KD, Winter RM, Taylor D, et al. Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Mobius spectrum of defects.' J Med Genet 1991;28:18-26.
-
(1991)
J Med Genet
, vol.28
, pp. 18-26
-
-
MacDermot, K.D.1
Winter, R.M.2
Taylor, D.3
-
59
-
-
0024795290
-
Congenital oculofacial paralysis (Moebius syndrome): Evidence of dominant inheritance in two families
-
Napoli
-
Dotti MT, Federico A, Palmeri S, et al. Congenital oculofacial paralysis (Moebius syndrome): evidence of dominant inheritance in two families. Acta Neurol (Napoli) 1989;11:434-438.
-
(1989)
Acta Neurol
, vol.11
, pp. 434-438
-
-
Dotti, M.T.1
Federico, A.2
Palmeri, S.3
-
60
-
-
0029658309
-
Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family
-
Kremer H, Kuyt LP, van den Helm B, et al. Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum Mol Genet 1996;5:1367-1371.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1367-1371
-
-
Kremer, H.1
Kuyt, L.P.2
Van Den Helm, B.3
-
61
-
-
0033364729
-
A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family
-
Verzijl HT, van den Helm B, Veldman B, et al. A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family. Am J Hum Genet 1999;65:752-756.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 752-756
-
-
Verzijl, H.T.1
Van Den Helm, B.2
Veldman, B.3
-
62
-
-
0018732830
-
Mobius syndrome. Neuropathologic observations
-
Berl
-
Towfighi J, Marks K, Palmer E, et al. Mobius syndrome. Neuropathologic observations. Acta Neuropathol (Berl) 1979;48:11-17.
-
(1979)
Acta Neuropathol
, vol.48
, pp. 11-17
-
-
Towfighi, J.1
Marks, K.2
Palmer, E.3
-
63
-
-
0004800561
-
Erfahrungen uber den Strabismus und die Muskeldurchschneidung am Auge in physiologischpathologischer und therapeutischer Beziehung
-
Baumgarten M. Erfahrungen uber den Strabismus und die Muskeldurchschneidung am Auge in physiologischpathologischer und therapeutischer Beziehung. Monatsschr Monatsbl Augenheilkd Chir 1840;3:474-499.
-
(1840)
Monatsschr Monatsbl Augenheilkd Chir
, vol.3
, pp. 474-499
-
-
Baumgarten, M.1
-
64
-
-
0000903119
-
Ueber angeborenen vererbten Beweglichkeitsdefect der Augen
-
Heuck G. Ueber angeborenen vererbten Beweglichkeitsdefect der Augen. Klin Monatsbl Augenheilkd 1879;17:253-279.
-
(1879)
Klin Monatsbl Augenheilkd
, vol.17
, pp. 253-279
-
-
Heuck, G.1
-
65
-
-
0002041445
-
Congenital structural muscle anomalies
-
Allen JH, ed. St Louis: Mosby
-
Brown HW. Congenital structural muscle anomalies. In: Allen JH, ed. Strabismus Ophthalmic Symposium. St Louis: Mosby; 1950:229.
-
(1950)
Strabismus Ophthalmic Symposium
, pp. 229
-
-
Brown, H.W.1
-
66
-
-
2342625411
-
Classification and management of patients with congenital fibrosis of the extraocular muscles
-
Yazdani A, Traboulsi EI. Classification and management of patients with congenital fibrosis of the extraocular muscles. Ophthalmology 2004;111:1035-1042.
-
(2004)
Ophthalmology
, vol.111
, pp. 1035-1042
-
-
Yazdani, A.1
Traboulsi, E.I.2
-
68
-
-
0008959119
-
Congenital fibrosis of the extraocular muscles: Report of 24 cases illustrating the clinical spectrum and surgical management
-
Traboulsi EI, Jaafar MS, Kattan H, et al. Congenital fibrosis of the extraocular muscles: report of 24 cases illustrating the clinical spectrum and surgical management. Am Orthop J 1993;43:45-53.
-
(1993)
Am Orthop J
, vol.43
, pp. 45-53
-
-
Traboulsi, E.I.1
Jaafar, M.S.2
Kattan, H.3
-
69
-
-
18944371643
-
Management of strabismus associated with congenital fibrosis of the extraocular muscles
-
Rosenbaum AL, Santiago AP, eds. St Louis: Mosby
-
Jaafar MS, Traboulsi EI. Management of strabismus associated with congenital fibrosis of the extraocular muscles. In: Rosenbaum AL, Santiago AP, eds. Clinical Strabismus Management: Principles and Surgical Techniques. St Louis: Mosby; 1999:363-370.
-
(1999)
Clinical Strabismus Management: Principles and Surgical Techniques
, pp. 363-370
-
-
Jaafar, M.S.1
Traboulsi, E.I.2
-
70
-
-
0033519294
-
Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B
-
Marszalek JR, Weiner JA, Farlow SJ, et al. Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B. J Cell Biol 1999;145:469-479.
-
(1999)
J Cell Biol
, vol.145
, pp. 469-479
-
-
Marszalek, J.R.1
Weiner, J.A.2
Farlow, S.J.3
-
71
-
-
0033231292
-
Development of noradrenergic neurons in the zebra fish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a
-
Guo S, Brush J, Teraoka H, et al. Development of noradrenergic neurons in the zebra fish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a. Neuron 1999;24:555-566.
-
(1999)
Neuron
, vol.24
, pp. 555-566
-
-
Guo, S.1
Brush, J.2
Teraoka, H.3
-
72
-
-
0022516549
-
Congenital ocular fibrosis syndrome associated with the Prader-Willi syndrome
-
Kalpakian B, Bateman JB, Sparkes RS, et al. Congenital ocular fibrosis syndrome associated with the Prader-Willi syndrome. J Pediatr Ophthalmol Strabismus 1986;23:170-173.
-
(1986)
J Pediatr Ophthalmol Strabismus
, vol.23
, pp. 170-173
-
-
Kalpakian, B.1
Bateman, J.B.2
Sparkes, R.S.3
-
73
-
-
0026652625
-
Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome
-
Hertle RW, Katowitz JA, Young TL, et al. Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology 1992;99:347-355.
-
(1992)
Ophthalmology
, vol.99
, pp. 347-355
-
-
Hertle, R.W.1
Katowitz, J.A.2
Young, T.L.3
-
74
-
-
18944399002
-
Progressive congenital familial ophthalmoplegia with optic nerve coloboma: Report of a family
-
Khawam E, Azar D, Shami M, et al. Progressive congenital familial ophthalmoplegia with optic nerve coloboma: report of a family. Binoc Vis 1987;2:223-231.
-
(1987)
Binoc Vis
, vol.2
, pp. 223-231
-
-
Khawam, E.1
Azar, D.2
Shami, M.3
-
75
-
-
0017816912
-
Generalized fibrosis of the extraocular muscles
-
Apt L, Axelrod RN. Generalized fibrosis of the extraocular muscles. Am J Ophthalmol 1978;85:822-829.
-
(1978)
Am J Ophthalmol
, vol.85
, pp. 822-829
-
-
Apt, L.1
Axelrod, R.N.2
-
76
-
-
0021819934
-
Congenital unilateral orbital fibrosis with suspected prenatal orbital penetration
-
Effron L, Price RL, Berlin AJ. Congenital unilateral orbital fibrosis with suspected prenatal orbital penetration. J Pediatr Ophthalmol Strabismus 1985;22:133-136.
-
(1985)
J Pediatr Ophthalmol Strabismus
, vol.22
, pp. 133-136
-
-
Effron, L.1
Price, R.L.2
Berlin, A.J.3
-
77
-
-
0024566720
-
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia
-
Appleton RE, Chitayat D, Jan JE, et al. Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. Arch Neurol 1989;46:579-582.
-
(1989)
Arch Neurol
, vol.46
, pp. 579-582
-
-
Appleton, R.E.1
Chitayat, D.2
Jan, J.E.3
-
78
-
-
0026771110
-
Joubert's syndrome, ocular fibrosis, and normal histidine levels
-
Jacobson DM, Johnson R, Frens DB. Joubert's syndrome, ocular fibrosis, and normal histidine levels. Am J Ophthalmol 1992;113:714-716.
-
(1992)
Am J Ophthalmol
, vol.113
, pp. 714-716
-
-
Jacobson, D.M.1
Johnson, R.2
Frens, D.B.3
-
80
-
-
0042125052
-
Mobius syndrome redefined: A syndrome of rhombencephalic maldevelopment
-
Verzijl HT, Van Der Zwaag B, Cruysberg JR, et al. Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 2003;61:327-333.
-
(2003)
Neurology
, vol.61
, pp. 327-333
-
-
Verzijl, H.T.1
Van Der Zwaag, B.2
Cruysberg, J.R.3
-
81
-
-
0024400197
-
Neural misdirection in congenital ocular fibrosis syndrome: Implications and pathogenesis
-
Brodsky MC, Pollock SC, Buckley EG. Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis [see comments]. J Pediatr Ophthalmol Strabismus 1989;26:159-161.
-
(1989)
J Pediatr Ophthalmol Strabismus
, vol.26
, pp. 159-161
-
-
Brodsky, M.C.1
Pollock, S.C.2
Buckley, E.G.3
-
82
-
-
0031894884
-
Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: A congenital fibrosis syndrome caused by deficient innervation to extraocular muscles
-
Brodsky MC. Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles. Ophthalmology 1998;105:717-725.
-
(1998)
Ophthalmology
, vol.105
, pp. 717-725
-
-
Brodsky, M.C.1
-
83
-
-
0038218185
-
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: A case report
-
Parentin F, Perissutti P. Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. Clin Dysmorphol 2003;12:141-142.
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 141-142
-
-
Parentin, F.1
Perissutti, P.2
-
84
-
-
0025155218
-
Duane's retraction syndrome in the fetal alcohol syndrome
-
Holzman AE, Chrousos GA, Kozma C, et al. Duane's retraction syndrome in the fetal alcohol syndrome. Am J Ophthalmol 1990;110:565-566.
-
(1990)
Am J Ophthalmol
, vol.110
, pp. 565-566
-
-
Holzman, A.E.1
Chrousos, G.A.2
Kozma, C.3
-
85
-
-
0025884458
-
Deletion of chromosome 13 in Moebius syndrome
-
Slee JJ, Smart RD, Viljoen DL. Deletion of chromosome 13 in Moebius syndrome. J Med Genet 1991;28:413-414.
-
(1991)
J Med Genet
, vol.28
, pp. 413-414
-
-
Slee, J.J.1
Smart, R.D.2
Viljoen, D.L.3
-
86
-
-
0017626152
-
Three generation pedigree of a Mobius syndrome variant with chromosome translocation
-
Ziter FA, Wiser WC, Robinson IC. Three generation pedigree of a Mobius syndrome variant with chromosome translocation. Arch Neurol 1977;34:437-442.
-
(1977)
Arch Neurol
, vol.34
, pp. 437-442
-
-
Ziter, F.A.1
Wiser, W.C.2
Robinson, I.C.3
-
87
-
-
0029116043
-
Effects of prenatal alcohol exposure on the postnatal morphology of the rat oculomotor nucleus
-
Burrows RC, Shetty AK, Phillips DE. Effects of prenatal alcohol exposure on the postnatal morphology of the rat oculomotor nucleus. Teratology 1995;51:318-328.
-
(1995)
Teratology
, vol.51
, pp. 318-328
-
-
Burrows, R.C.1
Shetty, A.K.2
Phillips, D.E.3
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