-
2
-
-
0026263832
-
An aetiological study on 6 to 14 year-old children with severe visual handicap in Hungary
-
Czeizel A, Torzs E, Lujza G, et al. An aetiological study on 6 to 14 year-old children with severe visual handicap in Hungary. Acta Paediatr Hung 1991;31:365-77.
-
(1991)
Acta Paediatr Hung
, vol.31
, pp. 365-377
-
-
Czeizel, A.1
Torzs, E.2
Lujza, G.3
-
3
-
-
0032040349
-
Population-based assessment of childhood blindness in southern India
-
Dandona L, Williams JD, Williams BC, et al. Population-based assessment of childhood blindness in southern India. Arch Ophthalmol 1998;116:545-6.
-
(1998)
Arch Ophthalmol
, vol.116
, pp. 545-546
-
-
Dandona, L.1
Williams, J.D.2
Williams, B.C.3
-
4
-
-
0028805550
-
Childhood blindness in India: Causes in 1318 blind school students in nine states
-
Rahi JS, Sripathi S, Gilbert CE, et al. Childhood blindness in India: causes in 1318 blind school students in nine states. Eye 1995;9:545-50.
-
(1995)
Eye
, vol.9
, pp. 545-550
-
-
Rahi, J.S.1
Sripathi, S.2
Gilbert, C.E.3
-
5
-
-
0033943782
-
Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma
-
Hornby SJ, Gilbert CE, Rahi J, et al. Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol 2000;7:127-38.
-
(2000)
Ophthalmic Epidemiol
, vol.7
, pp. 127-138
-
-
Hornby, S.J.1
Gilbert, C.E.2
Rahi, J.3
-
6
-
-
0003002427
-
Congenital deformities of the eye
-
London: Henry Kimptan
-
Duke-Elder S. Congenital deformities of the eye. In: System of ophthalmology. London: Henry Kimptan, 1964:415-29.
-
(1964)
System of Ophthalmology
, pp. 415-429
-
-
Duke-Elder, S.1
-
7
-
-
0021363777
-
The clinical implications of bilateral microphthalmos with cyst
-
Foxman S, Cameron JD. The clinical implications of bilateral microphthalmos with cyst. Am J Ophthalmol 1984;97:632-8.
-
(1984)
Am J Ophthalmol
, vol.97
, pp. 632-638
-
-
Foxman, S.1
Cameron, J.D.2
-
8
-
-
0020363230
-
Diagnostic precision in microphthalmos and coloboma of heterogeneous origin
-
Warburg M. Diagnostic precision in microphthalmos and coloboma of heterogeneous origin. Birth Defects 1982;18:31-50.
-
(1982)
Birth Defects
, vol.18
, pp. 31-50
-
-
Warburg, M.1
-
10
-
-
0027293603
-
Classification of microphthalmos and coloboma
-
Warburg M. Classification of microphthalmos and coloboma. J Med Genet 1993;30:664-9.
-
(1993)
J Med Genet
, vol.30
, pp. 664-669
-
-
Warburg, M.1
-
11
-
-
0017138458
-
Clinicopathologic correlation of microphthalmos with cyst
-
Waring GO, Roth AM, Rodrigues MM, Clinicopathologic correlation of microphthalmos with cyst. Am J Ophthalmol 1976;82:714-21.
-
(1976)
Am J Ophthalmol
, vol.82
, pp. 714-721
-
-
Waring, G.O.1
Roth, A.M.2
Rodrigues, M.M.3
-
12
-
-
0019379794
-
Ocular coloboma
-
Pagan RA. Ocular coloboma. Surv Ophthalmol 1981;25:223-36.
-
(1981)
Surv Ophthalmol
, vol.25
, pp. 223-236
-
-
Pagan, R.A.1
-
14
-
-
0034080897
-
Prognosis for vision in children with coloboma: Clinical features and a new phenotypic classification system
-
Hornby SJ, Adolph S, Gilbert CE, et al. Prognosis for vision in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology 2000;107:511-20.
-
(2000)
Ophthalmology
, vol.107
, pp. 511-520
-
-
Hornby, S.J.1
Adolph, S.2
Gilbert, C.E.3
-
16
-
-
0025787438
-
Development after exposure to mifepristone in early pregnancy
-
Pons JC, Imbert MC, Elefant E, et al. Development after exposure to mifepristone in early pregnancy. Lancet 1991;338:763
-
(1991)
Lancet
, vol.338
, pp. 763
-
-
Pons, J.C.1
Imbert, M.C.2
Elefant, E.3
-
17
-
-
84907114530
-
Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field
-
Warburg M, Friedrich U. Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field. Ophthalmic Paediatr Genet 1987;8:105-18.
-
(1987)
Ophthalmic Paediatr Genet
, vol.8
, pp. 105-118
-
-
Warburg, M.1
Friedrich, U.2
-
20
-
-
0017027217
-
Optic nerve colobomas of autosomal dominant heredity
-
Savell J, Cook JR. Optic nerve colobomas of autosomal dominant heredity. Arch Ophthalmol 1976;94:395-400.
-
(1976)
Arch Ophthalmol
, vol.94
, pp. 395-400
-
-
Savell, J.1
Cook, J.R.2
-
21
-
-
0032546292
-
Confirmation of the colobomatous macrophthalmia with microcornea syndrome: Report of another family
-
Pallotta R, Fusilli P, Sabatino G, et al. Confirmation of the colobomatous macrophthalmia with microcornea syndrome:report of another family. Am J Med Genet 1998;76:252-4.
-
(1998)
Am J Med Genet
, vol.76
, pp. 252-254
-
-
Pallotta, R.1
Fusilli, P.2
Sabatino, G.3
-
23
-
-
0028084721
-
Autosomal recessive colobomatous microphthalmia
-
Zlotogora J, Legum C, Raz J, et al. Autosomal recessive colobomatous microphthalmia. Am J Med Genet 1994;49:261-2.
-
(1994)
Am J Med Genet
, vol.49
, pp. 261-262
-
-
Zlotogora, J.1
Legum, C.2
Raz, J.3
-
24
-
-
0026648383
-
Hereditary microphthalmia with colobomatous cyst
-
Parges Y, Gershoni BR, Leibu R, et al. Hereditary microphthalmia with colobomatous cyst. Am J Ophthalmol 1992;114:30-4.
-
(1992)
Am J Ophthalmol
, vol.114
, pp. 30-34
-
-
Parges, Y.1
Gershoni, B.R.2
Leibu, R.3
-
25
-
-
0029038028
-
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?
-
Barros NP, Medina C, Mendoza R, et al. Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? Clin Genet 1995;48:160-1.
-
(1995)
Clin Genet
, vol.48
, pp. 160-161
-
-
Barros, N.P.1
Medina, C.2
Mendoza, R.3
-
26
-
-
0036153367
-
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology
-
Morrison DA, Fitzpatrick DR, Hanson I, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 2002;39:16-22.
-
(2002)
J Med Genet
, vol.39
, pp. 16-22
-
-
Morrison, D.A.1
Fitzpatrick, D.R.2
Hanson, I.3
-
28
-
-
0034020808
-
Requirements for optical services in children with coloboma, microphthalmos and microcornea in Southern India
-
Hornby SJ, Adolph S, Gothwal VK, et al. Requirements for optical services in children with coloboma, microphthalmos and microcornea in Southern India. Eye 2000;14:219-24.
-
(2000)
Eye
, vol.14
, pp. 219-224
-
-
Hornby, S.J.1
Adolph, S.2
Gothwal, V.K.3
-
29
-
-
0034279575
-
Evaluation of children in six blind schools of Andhra Pradesh, India
-
Hornby SJ, Adolph S, Gothwal VK, et al. Evaluation of children in six blind schools of Andhra Pradesh, India. Indian J Ophthalmol 2000;48:195-200.
-
(2000)
Indian J Ophthalmol
, vol.48
, pp. 195-200
-
-
Hornby, S.J.1
Adolph, S.2
Gothwal, V.K.3
-
30
-
-
0034915955
-
Anophthalmos in children from India: Clinical findings, pedigrees and consanguinity
-
Hornby SJ, Gilbert CE, Dandona LFA, et al. Anophthalmos in children from India: clinical findings, pedigrees and consanguinity. Dev Med Child Neurol 2001;43:392-5.
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 392-395
-
-
Hornby, S.J.1
Gilbert, C.E.2
Dandona, L.F.A.3
-
31
-
-
0003525651
-
-
Atlanta GA: Centers for Disease Control and Prevention
-
Dean AG, Dean JA, Coulambier D, et al. Epl Info, Version 6:a word processing, database, and statistics program for epidemiology on microcomputers. (6.04). Atlanta GA: Centers for Disease Control and Prevention, 1994.
-
(1994)
Epl Info, Version 6: A Word Processing, Database, and Statistics Program for Epidemiology on Microcomputers. (6.04)
-
-
Dean, A.G.1
Dean, J.A.2
Coulambier, D.3
-
32
-
-
0024757080
-
An analysis of 193 cases of congenital intraocular colobomas
-
Lu BX. [An analysis of 193 cases of congenital intraocular colobomas.] Chung Hua Yen Ko Tsa Chih 1989;25:357-9.
-
(1989)
Chung Hua Yen Ko Tsa Chih
, vol.25
, pp. 357-359
-
-
Lu, B.X.1
-
33
-
-
0034203617
-
Collie eye anomaly in the rough collie in Sweden: Genetic transmission and influence on offspring vitality
-
Wallin-Hakanson B, Wallin-Hankanson N, Hedhammar A. Collie eye anomaly in the rough collie in Sweden: genetic transmission and influence on offspring vitality. J Small Anim Pract 2000;41:254-8.
-
(2000)
J Small Anim Pract
, vol.41
, pp. 254-258
-
-
Wallin-Hakanson, B.1
Wallin-Hankanson, N.2
Hedhammar, A.3
-
34
-
-
0036131038
-
Environmental risk factors in the aetiology of congenital malformations of the eye in children in South India
-
Hornby SJ, Ward SJ, Gilbert CE, et al. Environmental risk factors in the aetiology of congenital malformations of the eye in children in South India. Arch Trop Paediatr 2002;22:67-77.
-
(2002)
Arch Trop Paediatr
, vol.22
, pp. 67-77
-
-
Hornby, S.J.1
Ward, S.J.2
Gilbert, C.E.3
-
36
-
-
0017027217
-
Optic nerve calobomas of autosomal-dominant heredity
-
Savell J, Coak JR. Optic nerve calobomas of autosomal-dominant heredity. Arch Ophthalmol 1976;94:395-400.
-
(1976)
Arch Ophthalmol
, vol.94
, pp. 395-400
-
-
Savell, J.1
Coak, J.R.2
-
37
-
-
0014364822
-
Colobomatous malformations of the ocular globe
-
Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin 1968;8:797-816.
-
(1968)
Int Ophthalmol Clin
, vol.8
, pp. 797-816
-
-
Francois, J.1
-
38
-
-
0033652303
-
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q 12-q15
-
Marle L, Bozon M, Zech JC, et al. A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q 12-q15. Am J Med Genet 2000;67:1592-7.
-
(2000)
Am J Med Genet
, vol.67
, pp. 1592-1597
-
-
Marle, L.1
Bozon, M.2
Zech, J.C.3
-
39
-
-
0028884763
-
Mutation of PAX2 in two siblings with renal-coloboma syndrome
-
Sanyanusin P, McNoe LA, Sullivan MJ, et al. Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum Mol Genet 1995;4:2183-4.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2183-2184
-
-
Sanyanusin, P.1
McNoe, L.A.2
Sullivan, M.J.3
-
40
-
-
0031691918
-
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies
-
Cunliffe HE, McNoe LA, Ward TA, et al. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. Med Genet 1998;35:806-12.
-
(1998)
Med Genet
, vol.35
, pp. 806-812
-
-
Cunliffe, H.E.1
McNoe, L.A.2
Ward, T.A.3
-
41
-
-
0034425404
-
Human microphthalmia associated with mutations in the retinal homeobax gene CHX10
-
Ferda Percin E, Ploder LA, Yu JJ, et al. Human microphthalmia associated with mutations in the retinal homeobax gene CHX10. Nat Genet 2000;25:397-401.
-
(2000)
Nat Genet
, vol.25
, pp. 397-401
-
-
Ferda Percin, E.1
Ploder, L.A.2
Yu, J.J.3
-
42
-
-
0031971589
-
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32
-
Bessant DA, Khaliq S, Hameed A, et al. A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Am J Hum Genet 1998;62:1113-16.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1113-1116
-
-
Bessant, D.A.1
Khaliq, S.2
Hameed, A.3
-
43
-
-
0019628954
-
Inheritance of microphthalmia with coloboma in the Australian shepherd dog
-
Gelatt KN, Powell NG, Huston K. Inheritance of microphthalmia with coloboma in the Australian shepherd dog. Am J Vet Res 1981;42:1686-90.
-
(1981)
Am J Vet Res
, vol.42
, pp. 1686-1690
-
-
Gelatt, K.N.1
Powell, N.G.2
Huston, K.3
-
44
-
-
0015065343
-
X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome
-
Galdberg MF, McKusick VA. X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome. Am J Ophthalmol 1971;71:1128-33.
-
(1971)
Am J Ophthalmol
, vol.71
, pp. 1128-1133
-
-
Galdberg, M.F.1
McKusick, V.A.2
-
45
-
-
0035876996
-
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia
-
Lehman DM, Spansel WE, Stratton RF, et al. Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet 2001;101:114-19.
-
(2001)
Am J Med Genet
, vol.101
, pp. 114-119
-
-
Lehman, D.M.1
Spansel, W.E.2
Stratton, R.F.3
|