메뉴 건너뛰기




Volumn 102, Issue , 2004, Pages 373-389

Congenital abnormalities of cranial nerve development: Overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CLINICAL EXAMINATION; CLINICAL PROTOCOL; COMPLEX FORMATION; CONTROLLED STUDY; CRANIAL NERVE; CRANIAL NEUROPATHY; EYE MOVEMENT; FAMILY; FEMALE; FIBROSIS; GAZE PARALYSIS; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOEBIUS SYNDROME; MOLECULAR MECHANICS; MOTOR NERVE; MUTATIONAL ANALYSIS; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PROMOTER REGION; RECESSIVE INHERITANCE; SCOLIOSIS; SENSORY NERVE; TRIGEMINAL NERVE DISEASE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; CHROMOSOME 11; CHROMOSOME MAP; CONGENITAL MALFORMATION; EXTRAOCULAR MUSCLE; GENETIC VARIABILITY; GENETICS; GROWTH, DEVELOPMENT AND AGING; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RECESSIVE GENE; SYNDROME;

EID: 12344300652     PISSN: 15456110     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (90)

References (87)
  • 1
    • 0041570128 scopus 로고    scopus 로고
    • 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
  • 2
    • 0037253537 scopus 로고    scopus 로고
    • Magnetic resonance imaging in Duane's retraction syndrome
    • Ozkurt H, Basak M, Oral Y, et al. Magnetic resonance imaging in Duane's retraction syndrome. J Pediatr Ophthalmol Strabismus 2003;40:19-22.
    • (2003) J Pediatr Ophthalmol Strabismus , vol.40 , pp. 19-22
    • Ozkurt, H.1    Basak, M.2    Oral, Y.3
  • 3
    • 17944386587 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.