-
1
-
-
33646104926
-
A review of anterior segment dysgeneses
-
Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT. A review of anterior segment dysgeneses. Surv Ophthalmol 2006; 51(3): 213-231.
-
(2006)
Surv Ophthalmol
, vol.51
, Issue.3
, pp. 213-231
-
-
Idrees, F.1
Vaideanu, D.2
Fraser, S.G.3
Sowden, J.C.4
Khaw, P.T.5
-
2
-
-
0002621289
-
Ueber angeborene Defektbildung der Descemetschen Membran
-
and
-
Peters A. Ueber angeborene Defektbildung der Descemetschen Membran. Klin Mbl Augenheilk 1906; 44: 27-40 and 105-119.
-
(1906)
Klin Mbl Augenheilk
, vol.44
-
-
Peters, A.1
-
3
-
-
0036147021
-
Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy
-
Nischal KK, Naor J, Jay V, MacKeen LD, Rootman DS. Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. Br J Ophthalmol 2002; 86(1): 62-69.
-
(2002)
Br J Ophthalmol
, vol.86
, Issue.1
, pp. 62-69
-
-
Nischal, K.K.1
Naor, J.2
Jay, V.3
MacKeen, L.D.4
Rootman, D.S.5
-
4
-
-
0028838036
-
Congenital hereditary endothelial dystrophy associated with glaucoma
-
Mullaney PB, Risco JM, Teichmann K, Millar L. Congenital hereditary endothelial dystrophy associated with glaucoma. Ophthalmology 1995; 102(2): 186-192.
-
(1995)
Ophthalmology
, vol.102
, Issue.2
, pp. 186-192
-
-
Mullaney, P.B.1
Risco, J.M.2
Teichmann, K.3
Millar, L.4
-
5
-
-
0028610106
-
A clinicopathologic study of posterior polymorphous dystrophy:iMplications for pathogenetic mechanism of the associated glaucoma
-
Threlkeld AB, Green WR, Quigley HA, de la Cruz Z, Stark WJ. A clinicopathologic study of posterior polymorphous dystrophy:iMplications for pathogenetic mechanism of the associated glaucoma. Trans Am Ophthalmol Soc 1994; 92: 133-165.
-
(1994)
Trans Am Ophthalmol Soc
, vol.92
, pp. 133-165
-
-
Threlkeld, A.B.1
Green, W.R.2
Quigley, H.A.3
de la Cruz, Z.4
Stark, W.J.5
-
6
-
-
0033375864
-
Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci
-
Kanis AB, Al-Rajhi AA, Taylor CM, Mathers WD, Folberg RY, Nishimura DY et al. Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. Ophthalmic Genet 1999; 20 4): 243-249.
-
(1999)
Ophthalmic Genet
, vol.20
, Issue.4
, pp. 243-249
-
-
Kanis, A.B.1
Al-Rajhi, A.A.2
Taylor, C.M.3
Mathers, W.D.4
Folberg, R.Y.5
Nishimura, D.Y.6
-
7
-
-
33644805177
-
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene
-
Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ et al. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci 2005; 46(12): 4480-4484.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, Issue.12
, pp. 4480-4484
-
-
Gwilliam, R.1
Liskova, P.2
Filipec, M.3
Kmoch, S.4
Jirsova, K.5
Huckle, E.J.6
-
8
-
-
33846310951
-
Autosonial recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11
-
Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Gangopadhyay N et al. Autosonial recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet 2007; 44 1): 64-68.
-
(2007)
J Med Genet
, vol.44
, Issue.1
, pp. 64-68
-
-
Jiao, X.1
Sultana, A.2
Garg, P.3
Ramamurthy, B.4
Vemuganti, G.K.5
Gangopadhyay, N.6
-
9
-
-
0025189563
-
Congenital iris ectropion and a new classification for anterior segment dysgenesis
-
Wilson ME. Congenital iris ectropion and a new classification for anterior segment dysgenesis. J Pediatr Ophthalmol Strabismus 1990; 27(1): 48-55.
-
(1990)
J Pediatr Ophthalmol Strabismus
, vol.27
, Issue.1
, pp. 48-55
-
-
Wilson, M.E.1
-
11
-
-
33845623172
-
A family with autosomal dominant oculo-auriculo-vertebral spectrum
-
Tasse C, Majewski F, Bohringer S, Fischer S, Ludecke HJ, Gillessen-Kaesbach G et al. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 2007; 16 1): 1-7.
-
(2007)
Clin Dysmorphol
, vol.16
, Issue.1
, pp. 1-7
-
-
Tasse, C.1
Majewski, F.2
Bohringer, S.3
Fischer, S.4
Ludecke, H.J.5
Gillessen-Kaesbach, G.6
-
13
-
-
0030797773
-
Solid dermoids of the limbus and the cornea
-
Burillon C, Durand L. Solid dermoids of the limbus and the cornea. Ophthalmologica 1997; 211(6): 367-372.
-
(1997)
Ophthalmologica
, vol.211
, Issue.6
, pp. 367-372
-
-
Burillon, C.1
Durand, L.2
-
14
-
-
0021054227
-
Sclerocornea and Ultrastructural and morphologic study
-
Petroutsos G, Patey A, Savoldelli M, Pouliquen Y. Sclerocornea and Ultrastructural and morphologic study. J Fr Ophtalmol 1983; 6 10): 769-775.
-
(1983)
J Fr Ophtalmol
, vol.6
, Issue.10
, pp. 769-775
-
-
Petroutsos, G.1
Patey, A.2
Savoldelli, M.3
Pouliquen, Y.4
-
15
-
-
0029352127
-
Congenital familial cornea plana with ptosis, peripheral sclerocornea and conjunctival xerosis
-
Waizenegger UR, Kohnen T, Waidle EG, Schutte E. Congenital familial cornea plana with ptosis, peripheral sclerocornea and conjunctival xerosis. Klin Monatsbl Augenheilkd 1995; 207(2): 111-116.
-
(1995)
Klin Monatsbl Augenheilkd
, vol.207
, Issue.2
, pp. 111-116
-
-
Waizenegger, U.R.1
Kohnen, T.2
Waidle, E.G.3
Schutte, E.4
-
16
-
-
0031791516
-
Glaucoma with microcornea; morphometry and differential diagnosis
-
Fukuchi T, Ueda J, Hara H, Oota A, Watanabe J, Shirakashi M, Abe H et al. Glaucoma with microcornea; morphometry and differential diagnosis. Nippon Ganka Gakkai Zasshi 1998; 102(11): 746-751.
-
(1998)
Nippon Ganka Gakkai Zasshi
, vol.102
, Issue.11
, pp. 746-751
-
-
Fukuchi, T.1
Ueda, J.2
Hara, H.3
Oota, A.4
Watanabe, J.5
Shirakashi, M.6
Abe, H.7
-
17
-
-
0018418062
-
Dysgenetic lens (dyl) - a new gene in the mouse
-
Sanyal S, Hawkins RK. Dysgenetic lens (dyl) - a new gene in the mouse. Invest Ophthalmol Vis Sci 1979; 18(60): 642-645.
-
(1979)
Invest Ophthalmol Vis Sci
, vol.18
, Issue.60
, pp. 642-645
-
-
Sanyal, S.1
Hawkins, R.K.2
-
18
-
-
0034650544
-
A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle
-
Blixt Å, Mahlapuu M, Aitola M, Pelto-Huikko M, Enerbáck S, Carlsson P. A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle. Genes Dev 2000; 14: 245-254.
-
(2000)
Genes Dev
, vol.14
, pp. 245-254
-
-
Blixt, A.1
Mahlapuu, M.2
Aitola, M.3
Pelto-Huikko, M.4
Enerbáck, S.5
Carlsson, P.6
-
19
-
-
0036237994
-
haploinsufficiency in mice: A model for Peters' anomaly
-
Ormestad M, Blixt A, Churchill A, Martinsson T, Enerback S, Carlsson P. haploinsufficiency in mice: A model for Peters' anomaly. Invest Ophthalmol Vis Sci 2002; 43(5): 1350-1357.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, Issue.5
, pp. 1350-1357
-
-
Ormestad, M.1
Blixt, A.2
Churchill, A.3
Martinsson, T.4
Enerback, S.5
Carlsson, P.6
-
20
-
-
0031659016
-
Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8
-
Grimes PA, Koeberlein B, Favor J, Neuhauser-Klaus A, Stambolian D. Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8. Invest Ophthalmol Vis Sci 1998; 39(10): 1863-1869.
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, Issue.10
, pp. 1863-1869
-
-
Grimes, P.A.1
Koeberlein, B.2
Favor, J.3
Neuhauser-Klaus, A.4
Stambolian, D.5
-
21
-
-
0023853042
-
Keratolenticular dysgenesis (Peters' anomaly) as a result of acute embryonic insult during gastrulation
-
Cook CS, Sulik KK. Keratolenticular dysgenesis (Peters' anomaly) as a result of acute embryonic insult during gastrulation. J Pediatr Ophthalmol Strabismus 1988; 25(2): 60-66.
-
(1988)
J Pediatr Ophthalmol Strabismus
, vol.25
, Issue.2
, pp. 60-66
-
-
Cook, C.S.1
Sulik, K.K.2
-
22
-
-
0002997039
-
Congenital anomalies of the cornea
-
Kaufman HE, Barron BA, McDonald MB Eds, Second Edn. Butterworth-Heinemann, Boston
-
Townsend W. Congenital anomalies of the cornea. In: Kaufman HE, Barron BA, McDonald MB (Eds) The Cornea. Second Edn. Butterworth-Heinemann, Boston, 37373-37376.
-
The Cornea
, pp. 37373-37376
-
-
Townsend, W.1
-
23
-
-
35148859007
-
-
Duke-Elder S. System of Ophthalmology III. Normal and Abnormal Development Part I, Embryology. CV Mosby, St Louis, 1963.
-
Duke-Elder S. System of Ophthalmology Vol. III. Normal and Abnormal Development Part I, Embryology. CV Mosby, St Louis, 1963.
-
-
-
-
24
-
-
0014009334
-
Role of the lens in the morphogenesis of the iris and cornea
-
Genis-Galvez JM. Role of the lens in the morphogenesis of the iris and cornea. Nature 1966; 210: 209-210.
-
(1966)
Nature
, vol.210
, pp. 209-210
-
-
Genis-Galvez, J.M.1
-
25
-
-
0014750863
-
Changes in corneal ultrastructure resulting from early lens removal in the developing chick embryo
-
Zinn KM. Changes in corneal ultrastructure resulting from early lens removal in the developing chick embryo. Invest Ophthalmol 1970; 9: 165-182.
-
(1970)
Invest Ophthalmol
, vol.9
, pp. 165-182
-
-
Zinn, K.M.1
-
26
-
-
0031811116
-
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
-
Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS et al. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet 1998; 19: 167-170.
-
(1998)
Nat Genet
, vol.19
, pp. 167-170
-
-
Semina, E.V.1
Ferrell, R.E.2
Mintz-Hittner, H.A.3
Bitoun, P.4
Alward, W.L.5
Reiter, R.S.6
-
27
-
-
0034234546
-
Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice
-
Semina EV, Murray JC, Reiter R, Hrstka RF, Graw J. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum Mol Genet 2000; 9: 1575-1585.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1575-1585
-
-
Semina, E.V.1
Murray, J.C.2
Reiter, R.3
Hrstka, R.F.4
Graw, J.5
-
28
-
-
33746492174
-
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans
-
Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B et al. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Am J Hum Genet 2006; 79 2): 358-364.
-
(2006)
Am J Hum Genet
, vol.79
, Issue.2
, pp. 358-364
-
-
Valleix, S.1
Niel, F.2
Nedelec, B.3
Algros, M.P.4
Schwartz, C.5
Delbosc, B.6
-
29
-
-
0031032810
-
Congenital aphakia: Clinicopathologic report of three cases
-
Johnson BL, Cheng KP, Congenital aphakia: Clinicopathologic report of three cases. J Pediatr Ophthalmol Strabismus 1997; 34: 35-39.
-
(1997)
J Pediatr Ophthalmol Strabismus
, vol.34
, pp. 35-39
-
-
Johnson, B.L.1
Cheng, K.P.2
-
30
-
-
0035677968
-
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous
-
Matsubara A, Ozeki H, Matsunaga N, Nozaki M, Ashikari M, Shirai S et al. Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. Br J Ophthalmol 2001; 85(12): 1421-1425.
-
(2001)
Br J Ophthalmol
, vol.85
, Issue.12
, pp. 1421-1425
-
-
Matsubara, A.1
Ozeki, H.2
Matsunaga, N.3
Nozaki, M.4
Ashikari, M.5
Shirai, S.6
-
31
-
-
33750580121
-
Ocular abnormalities in mice lacking the Ski proto-oncogene
-
McGannon P, Miyazaki Y, Gupta PC, Traboulsi EI, Colmenares C. Ocular abnormalities in mice lacking the Ski proto-oncogene. Invest Ophthalmol Vis Sci 2006; 47(10): 4231-4237.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, Issue.10
, pp. 4231-4237
-
-
McGannon, P.1
Miyazaki, Y.2
Gupta, P.C.3
Traboulsi, E.I.4
Colmenares, C.5
-
32
-
-
20444379983
-
Isolated herpes simplex keratoconjunctivitis in a neonate born by cesarean delivery
-
Gallardo MJ, Johnson DA, Gaviria J, Nguyen L, Melendez R, Connor DA et al. Isolated herpes simplex keratoconjunctivitis in a neonate born by cesarean delivery. J AAPOS 2005; 9(3): 285-287.
-
(2005)
J AAPOS
, vol.9
, Issue.3
, pp. 285-287
-
-
Gallardo, M.J.1
Johnson, D.A.2
Gaviria, J.3
Nguyen, L.4
Melendez, R.5
Connor, D.A.6
-
33
-
-
0018890655
-
Uniocular congenital blindness as a complication of midtrimester amniocentesis
-
Merin S, Beyth Y. Uniocular congenital blindness as a complication of midtrimester amniocentesis. Am J Ophthalmol 1980; 89(2): 299-301.
-
(1980)
Am J Ophthalmol
, vol.89
, Issue.2
, pp. 299-301
-
-
Merin, S.1
Beyth, Y.2
-
34
-
-
0033926590
-
Molecular genetics of primary congenital glaucoma
-
Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye 2000; 14: 422-428.
-
(2000)
Eye
, vol.14
, pp. 422-428
-
-
Sarfarazi, M.1
Stoilov, I.2
-
35
-
-
25444504573
-
A compound heterozygous change found in Peters' anomaly
-
Churchill AJ, Yeung A. A compound heterozygous change found in Peters' anomaly. Mol Vis 2005; 11: 66-70.
-
(2005)
Mol Vis
, vol.11
, pp. 66-70
-
-
Churchill, A.J.1
Yeung, A.2
-
36
-
-
33646696210
-
Further support of the role of CYP1B1 in patients with Peters anomaly
-
Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M et al. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis 2006; 12: 506-510.
-
(2006)
Mol Vis
, vol.12
, pp. 506-510
-
-
Vincent, A.1
Billingsley, G.2
Priston, M.3
Glaser, T.4
Oliver, E.5
Walter, M.6
-
37
-
-
0028308664
-
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
-
Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 1994; 6(2): 168-173.
-
(1994)
Nat Genet
, vol.6
, Issue.2
, pp. 168-173
-
-
Hanson, I.M.1
Fletcher, J.M.2
Jordan, T.3
Brown, A.4
Taylor, D.5
Adams, R.J.6
-
38
-
-
0018898495
-
Anterior segment dysgenesis keratolenticular adhesion and aniridia
-
Beauchamp GR. Anterior segment dysgenesis keratolenticular adhesion and aniridia. J Pediatr Ophthalmol Strabismus 1980; 17(1): 55-58.
-
(1980)
J Pediatr Ophthalmol Strabismus
, vol.17
, Issue.1
, pp. 55-58
-
-
Beauchamp, G.R.1
-
40
-
-
0033033257
-
A mutation in the RIEG1 gene associated with Peters' anomaly
-
Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. A mutation in the RIEG1 gene associated with Peters' anomaly. J Med Genet 1999; 36(2): 152-155.
-
(1999)
J Med Genet
, vol.36
, Issue.2
, pp. 152-155
-
-
Doward, W.1
Perveen, R.2
Lloyd, I.C.3
Ridgway, A.E.4
Wilson, L.5
Black, G.C.6
-
41
-
-
0037373710
-
A family with Axenfeld-Rieger syndrome and Peters anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene
-
Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH et al. A family with Axenfeld-Rieger syndrome and Peters anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol 2003; 135(3): 368-375.
-
(2003)
Am J Ophthalmol
, vol.135
, Issue.3
, pp. 368-375
-
-
Honkanen, R.A.1
Nishimura, D.Y.2
Swiderski, R.E.3
Bennett, S.R.4
Hong, S.5
Kwon, Y.H.6
|