-
2
-
-
0025989346
-
Congenital ocular fibrosis with musculoskeletal abnormality: A new association
-
Kishore K, Kumar H. Congenital ocular fibrosis with musculoskeletal abnormality: a new association. J Pediatr Ophthalmol Strabismus 1991;28(5):283-6.
-
(1991)
J Pediatr Ophthalmol Strabismus
, vol.28
, Issue.5
, pp. 283-286
-
-
Kishore, K.1
Kumar, H.2
-
3
-
-
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. J Pediatr Ophthalmol Strabismus 1989;26(4):159-61.
-
(1989)
J Pediatr Ophthalmol Strabismus
, vol.26
, Issue.4
, pp. 159-161
-
-
Brodsky, M.C.1
Pollock, S.C.2
Buckley, E.G.3
-
4
-
-
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(4):717-25.
-
(1998)
Ophthalmology
, vol.105
, Issue.4
, pp. 717-725
-
-
Brodsky, M.C.1
-
5
-
-
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, de Vries B, Loewenstein A, Lazar M, 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(5):1086-94.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.5
, pp. 1086-1094
-
-
Engle, E.C.1
Marondel, I.2
Houtman, W.A.3
De Vries, B.4
Loewenstein, A.5
Lazar, M.6
-
6
-
-
0031058836
-
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
-
Engle E, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Potter JD, et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 1997;41(3):314-25.
-
(1997)
Ann Neurol
, vol.41
, Issue.3
, pp. 314-325
-
-
Engle, E.1
Goumnerov, B.C.2
McKeown, C.A.3
Schatz, M.4
Johns, D.R.5
Potter, J.D.6
-
7
-
-
0032231607
-
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13
-
Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, 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(2):517-25.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.2
, pp. 517-525
-
-
Wang, S.M.1
Zwaan, J.2
Mullaney, P.B.3
Jabak, M.H.4
Al-Awad, A.5
Beggs, A.H.6
-
8
-
-
0032991253
-
CFEOM3: A new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3
-
Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci 1999;40(8):1687-94.
-
(1999)
Invest Ophthalmol Vis Sci
, vol.40
, Issue.8
, pp. 1687-1694
-
-
Doherty, E.J.1
Macy, M.E.2
Wang, S.M.3
Dykeman, C.P.4
Melanson, M.T.5
Engle, E.C.6
-
9
-
-
0035179560
-
Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
-
Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, et al. Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 2001;29(3):315-20.
-
(2001)
Nat Genet
, vol.29
, Issue.3
, pp. 315-320
-
-
Nakano, M.1
Yamada, K.2
Fain, J.3
Sener, E.C.4
Selleck, C.J.5
Awad, A.H.6
-
10
-
-
0036403844
-
The molecular basis of the congenital fibrosis syndromes
-
Engle E. The molecular basis of the congenital fibrosis syndromes. Strabismus 2002;10(2):125-8.
-
(2002)
Strabismus
, vol.10
, Issue.2
, pp. 125-128
-
-
Engle, E.1
-
11
-
-
0034773540
-
Congenital fibrosis syndromes
-
Shivaram SM, Engle EC, Petersen RA, Robb RM. Congenital fibrosis syndromes. Int Ophthalmol Clin 2001; 41(4):105-13.
-
(2001)
Int Ophthalmol Clin
, vol.41
, Issue.4
, pp. 105-113
-
-
Shivaram, S.M.1
Engle, E.C.2
Petersen, R.A.3
Robb, R.M.4
-
12
-
-
0014626061
-
Chronic progressive external ophthalmoplegia: A critical review
-
Daroff RB. Chronic progressive external ophthalmoplegia: a critical review. Arch Ophthalmol 1969;82:845-50.
-
(1969)
Arch Ophthalmol
, vol.82
, pp. 845-850
-
-
Daroff, R.B.1
-
13
-
-
0025290503
-
Computerized tomography in the diagnosis of the congenital fibrosis syndrome
-
Hupp SL, Williams JP, Curran JE. Computerized tomography in the diagnosis of the congenital fibrosis syndrome. J Clin Neuroophthalmol 1990;10(2):135-9.
-
(1990)
J Clin Neuroophthalmol
, vol.10
, Issue.2
, pp. 135-139
-
-
Hupp, S.L.1
Williams, J.P.2
Curran, J.E.3
-
14
-
-
0028904653
-
Congenital fibrosis of the vertically acting extraocular muscles: A new group of dominantly inherited ocular fibrosis with radiologic findings
-
Gillies WE, Harris AJ, Brooks AMV, Rivers MR, Wolfe RJB. Congenital fibrosis of the vertically acting extraocular muscles: a new group of dominantly inherited ocular fibrosis with radiologic findings. Ophthalmology 1995; 102(4):607-12.
-
(1995)
Ophthalmology
, vol.102
, Issue.4
, pp. 607-612
-
-
Gillies, W.E.1
Harris, A.J.2
Brooks, A.M.V.3
Rivers, M.R.4
Wolfe, R.J.B.5
-
15
-
-
0026652625
-
Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome
-
Hertle RW, Katowitz JA, Young TL, Quinn GE, Farber MG. Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology 1992;99(3):347-55.
-
(1992)
Ophthalmology
, vol.99
, Issue.3
, pp. 347-355
-
-
Hertle, R.W.1
Katowitz, J.A.2
Young, T.L.3
Quinn, G.E.4
Farber, M.G.5
-
16
-
-
0025681614
-
Congenital fibrosis syndrome
-
Simonsz HJ. Congenital fibrosis syndrome [letter]. J Pediatr Ophthalmol Strabismus 1990;27(6):328-9.
-
(1990)
J Pediatr Ophthalmol Strabismus
, vol.27
, Issue.6
, pp. 328-329
-
-
Simonsz, H.J.1
-
17
-
-
0029747222
-
Familial congenital horizontal gaze paralysis
-
Steffen H, Thomsen M, Kolling GH. [Familial congenital horizontal gaze paralysis.] Ophthalmologe 1996;93(4):380-2.
-
(1996)
Ophthalmologe
, vol.93
, Issue.4
, pp. 380-382
-
-
Steffen, H.1
Thomsen, M.2
Kolling, G.H.3
-
18
-
-
0037072276
-
Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis
-
Pieh C, Lengyel D, Neff A, Fretz C, Gottlob I. Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis. Neurology 2002;59(3):462-3.
-
(2002)
Neurology
, vol.59
, Issue.3
, pp. 462-463
-
-
Pieh, C.1
Lengyel, D.2
Neff, A.3
Fretz, C.4
Gottlob, I.5
|