-
2
-
-
55449136509
-
Epidemiology of aniridia in Sweden and Norway
-
Eden U, Iggman D, Riise R, Tornqvist K. Epidemiology of aniridia in Sweden and Norway. Acta Ophthalmol 2008; 86(7):727-729.
-
(2008)
Acta Ophthalmol
, vol.86
, Issue.7
, pp. 727-729
-
-
Eden, U.1
Iggman, D.2
Riise, R.3
Tornqvist, K.4
-
3
-
-
0023230020
-
Prevalence and mode of inheritance of major genetic eye diseases in China
-
Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. Am J Med Genet 1987; 24(10):584-588.
-
(1987)
Am J Med Genet
, vol.24
, Issue.10
, pp. 584-588
-
-
Hu, D.N.1
-
4
-
-
77958153679
-
Corneal involvement in congenital aniridia
-
Eden U, Riise R, Tornqvist K. Corneal involvement in congenital aniridia. Cornea 2010;29(10):1096-1102.
-
(2010)
Cornea
, vol.29
, Issue.10
, pp. 1096-1102
-
-
Eden, U.1
Riise, R.2
Tornqvist, K.3
-
5
-
-
83455261906
-
Ocular and systemic findings in a survey of aniridia subjects
-
Netland PA, Scott ML, Boyle JWt, Lauderdale JD. Ocular and systemic findings in a survey of aniridia subjects. Journal of AAPOS: The Official Publication of the American Association for Pediatric Ophthalmology and Strabismus/American Association for Pediatric Ophthalmology and Strabismus 2011;15(6):562-566.
-
(2011)
Journal of AAPOS: The Official Publication of the American Association for Pediatric Ophthalmology and Strabismus/American Association for Pediatric Ophthalmology and Strabismus
, vol.15
, Issue.6
, pp. 562-566
-
-
Netland, P.A.1
Scott, M.L.2
Jwt, B.3
Lauderdale, J.D.4
-
6
-
-
66849103748
-
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations
-
Hingorani M, Williamson KA, Moore AT, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci 2009; 50(6):2581-2590.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, Issue.6
, pp. 2581-2590
-
-
Hingorani, M.1
Williamson, K.A.2
Moore, A.T.3
Van Heyningen, V.4
-
7
-
-
24644460625
-
Keratopathy in congenital aniridia
-
Mayer KL, Nordlund ML, Schwartz GS, Holland EJ. Keratopathy in congenital aniridia. Ocul Surf 2003; 1(2):74-79.
-
(2003)
Ocul Surf
, vol.1
, Issue.2
, pp. 74-79
-
-
Mayer, K.L.1
Nordlund, M.L.2
Schwartz, G.S.3
Holland, E.J.4
-
8
-
-
79952932093
-
Congenital aniridia variant: Minimally abnormal irides with severe limbal stem cell deficiency
-
Skeens HM, Brooks BP, Holland EJ. Congenital aniridia variant: Minimally abnormal irides with severe limbal stem cell deficiency. Ophthalmology 2011;118(7):1260-1264.
-
(2011)
Ophthalmology
, vol.118
, Issue.7
, pp. 1260-1264
-
-
Skeens, H.M.1
Brooks, B.P.2
Holland, E.J.3
-
9
-
-
0029097307
-
Mutation of the PAX6 gene in patients with autosomal dominant keratitis
-
Mirzayans F, Pearce WG, MacDonald IM, Walter MA. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 1995;57(3):539-548.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.3
, pp. 539-548
-
-
Mirzayans, F.1
Pearce, W.G.2
MacDonald, I.M.3
Walter, M.A.4
-
11
-
-
1542648311
-
Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: A report from the National Wilms Tumor Study Group
-
Breslow NE, Norris R, Norkool PA, et al. Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: A report from the National Wilms Tumor Study Group. J Clin Oncol: Official Journal of the American Society of Clinical Oncology 2003;21(24):4579-4585.
-
(2003)
J Clin Oncol: Official Journal of the American Society of Clinical Oncology
, vol.21
, Issue.24
, pp. 4579-4585
-
-
Breslow, N.E.1
Norris, R.2
Norkool, P.A.3
-
12
-
-
33748959854
-
Gillespie syndrome: 2 familial cases
-
Boughamoura L, Yacoub M, Abroug M, et al. [Gillespie syndrome: 2 familial cases]. Arch Pediatr 2006; 13(10):1323-1325.
-
(2006)
Arch Pediatr
, vol.13
, Issue.10
, pp. 1323-1325
-
-
Boughamoura, L.1
Yacoub, M.2
Abroug, M.3
-
13
-
-
0025318048
-
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation: Gillespie syndrome
-
Nevin NC, Lim JH. Syndrome of partial aniridia, cerebellar ataxia, and mental retardation: Gillespie syndrome. Am J Med Genet 1990;35(4):468-469.
-
(1990)
Am J Med Genet
, vol.35
, Issue.4
, pp. 468-469
-
-
Nevin, N.C.1
Lim, J.H.2
-
14
-
-
0030927863
-
The incidence of PAX6 mutation in patients with simple aniridia: An evaluation of mutation detection in 12 cases
-
Axton R, Hanson I, Danes S, et al. The incidence of PAX6 mutation in patients with simple aniridia: An evaluation of mutation detection in 12 cases. J Med Genet 1997; 34(4):279-286.
-
(1997)
J Med Genet
, vol.34
, Issue.4
, pp. 279-286
-
-
Axton, R.1
Hanson, I.2
Danes, S.3
-
15
-
-
77953079036
-
Clinical and molecular aspects of aniridia
-
Kokotas H, Petersen MB. Clinical and molecular aspects of aniridia. Clin Genet 2010;77(5):409-420.
-
(2010)
Clin Genet
, vol.77
, Issue.5
, pp. 409-420
-
-
Kokotas, H.1
Petersen, M.B.2
-
16
-
-
0026907123
-
The human PAX6 gene is mutated in two patients with aniridia
-
Jordan T, Hanson I, Zaletayev D, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1992;1(5):328-332.
-
(1992)
Nat Genet
, vol.1
, Issue.5
, pp. 328-332
-
-
Jordan, T.1
Hanson, I.2
Zaletayev, D.3
-
17
-
-
0026315044
-
Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region
-
Ton CC, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region. Cell 1991;67(6):1059-1074.
-
(1991)
Cell
, vol.67
, Issue.6
, pp. 1059-1074
-
-
Ton, C.C.1
Hirvonen, H.2
Miwa, H.3
-
18
-
-
0026755544
-
Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene
-
Ton CC, Miwa H, Saunders GF. Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene. Genomics 1992;13(2):251-256.
-
(1992)
Genomics
, vol.13
, Issue.2
, pp. 251-256
-
-
Ton, C.C.1
Miwa, H.2
Saunders, G.F.3
-
19
-
-
0029736446
-
Genetics of aniridia and anterior segment dysgenesis
-
Churchill A, Booth A. Genetics of aniridia and anterior segment dysgenesis. Br J Ophthalmol 1996;80(7):669-673.
-
(1996)
Br J Ophthalmol
, vol.80
, Issue.7
, pp. 669-673
-
-
Churchill, A.1
Booth, A.2
-
20
-
-
0028944665
-
Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila
-
Halder G, Callaerts P, Gehring WJ. Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science 1995;267(5205):1788-1792.
-
(1995)
Science
, vol.267
, Issue.5205
, pp. 1788-1792
-
-
Halder, G.1
Callaerts, P.2
Gehring, W.J.3
-
21
-
-
84862799630
-
Comparison between aniridia with and without PAX6 mutations: Clinical and molecular analysis in 14 Korean patients with aniridia
-
Lim HT, Seo EJ, Kim GH, et al. Comparison between aniridia with and without PAX6 mutations: Clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology 2012;119(6):1258-1264.
-
(2012)
Ophthalmology
, vol.119
, Issue.6
, pp. 1258-1264
-
-
Lim, H.T.1
Seo, E.J.2
Kim, G.H.3
-
22
-
-
84856088671
-
PAX6 3' deletion in a family with aniridia
-
Wawrocka A, Budny B, Debicki S, et al. PAX6 3' deletion in a family with aniridia. Ophthalmic Genet 2012;33(1):44-48.
-
(2012)
Ophthalmic Genet
, vol.33
, Issue.1
, pp. 44-48
-
-
Wawrocka, A.1
Budny, B.2
Debicki, S.3
-
23
-
-
0031842937
-
The Human PAX6 Mutation Database
-
Brown A, McKie M, van Heyningen V, Prosser J. The Human PAX6 Mutation Database. Nucleic Acids Res 1998; 26(1):259-264.
-
(1998)
Nucleic Acids Res
, vol.26
, Issue.1
, pp. 259-264
-
-
Brown, A.1
McKie, M.2
Van Heyningen, V.3
Prosser, J.4
-
24
-
-
33749057696
-
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
-
Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 2006;14(10):1074-1081.
-
(2006)
Eur J Hum Genet
, vol.14
, Issue.10
, pp. 1074-1081
-
-
Khajavi, M.1
Inoue, K.2
Lupski, J.R.3
-
25
-
-
25444528475
-
PAX6 mutations: Genotype-phenotype correlations
-
Tzoulaki I, White IM, Hanson IM. PAX6 mutations: Genotype-phenotype correlations. BMC Genet 2005;6:27.
-
(2005)
BMC Genet
, vol.6
, pp. 27
-
-
Tzoulaki, I.1
White, I.M.2
Hanson, I.M.3
-
26
-
-
0028308664
-
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
-
Hanson IM, Fletcher JM, Jordan T, 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
-
27
-
-
43049147169
-
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
-
Robinson DO, Howarth RJ, Williamson KA, et al. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A 2008;146A(5):558-569.
-
(2008)
Am J Med Genet A
, vol.146 A
, Issue.5
, pp. 558-569
-
-
Robinson, D.O.1
Howarth, R.J.2
Williamson, K.A.3
-
28
-
-
68349093935
-
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
-
Ito YA, Footz TK, Berry FB, et al. Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest Ophthalmol Vis Sci 2009;50(8):3573-3579.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, Issue.8
, pp. 3573-3579
-
-
Ito, Y.A.1
Footz, T.K.2
Berry, F.B.3
-
29
-
-
84864305831
-
Analysis of FOXD3 sequence variation in human ocular disease
-
Kloss BA, Reis LM, Bremond-Gignac D, et al. Analysis of FOXD3 sequence variation in human ocular disease. Molecular Vision 2012;18:1740-1749.
-
(2012)
Molecular Vision
, vol.18
, pp. 1740-1749
-
-
Kloss, B.A.1
Reis, L.M.2
Bremond-Gignac, D.3
-
30
-
-
0028140080
-
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebel-lar ataxia, and mental retardation)
-
Glaser T, Ton CC, Mueller R, et al. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebel-lar ataxia, and mental retardation). Genomics 1994; 19(1):145-148.
-
(1994)
Genomics
, vol.19
, Issue.1
, pp. 145-148
-
-
Glaser, T.1
Ton, C.C.2
Mueller, R.3
-
31
-
-
11144273257
-
Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy
-
Ramaesh K, Ramaesh T, Dutton GN, Dhillon B. Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy. Int J Biochem Cell Biol 2005;37(3):547-557.
-
(2005)
Int J Biochem Cell Biol
, vol.37
, Issue.3
, pp. 547-557
-
-
Ramaesh, K.1
Ramaesh, T.2
Dutton, G.N.3
Dhillon, B.4
-
32
-
-
84859803538
-
Surgical and visual outcomes of the type i Boston Keratoprosthesis for the management of aniridic fibrosis syndrome in congenital aniridia
-
Bakhtiari P, Chan C, Welder JD, et al. Surgical and visual outcomes of the type I Boston Keratoprosthesis for the management of aniridic fibrosis syndrome in congenital aniridia. Am J Ophthalmol 2012;153(5):967-971.
-
(2012)
Am J Ophthalmol
, vol.153
, Issue.5
, pp. 967-971
-
-
Bakhtiari, P.1
Chan, C.2
Welder, J.D.3
-
33
-
-
0029741248
-
Recurrent keratopathy after penetrating keratoplasty for aniridia
-
Gomes JA, Eagle Jr RC, Gomes AK, et al. Recurrent keratopathy after penetrating keratoplasty for aniridia. Cornea 1996;15(5):457-462.
-
(1996)
Cornea
, vol.15
, Issue.5
, pp. 457-462
-
-
Gomes, J.A.1
Eagle Jr., R.C.2
Gomes, A.K.3
-
34
-
-
0027532492
-
Results of penetrating keratoplasty in aniridia
-
Kremer I, Rajpal RK, Rapuano CJ, et al. Results of penetrating keratoplasty in aniridia. Am J Ophthalmol 1993;115(3):317-320.
-
(1993)
Am J Ophthalmol
, vol.115
, Issue.3
, pp. 317-320
-
-
Kremer, I.1
Rajpal, R.K.2
Rapuano, C.J.3
-
35
-
-
0037226810
-
Management of aniridic keratopathy with keratolimbal allograft: A limbal stem cell transplantation technique
-
Holland EJ, Djalilian AR, Schwartz GS. Management of aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique. Ophthalmology 2003; 110(1):125-130.
-
(2003)
Ophthalmology
, vol.110
, Issue.1
, pp. 125-130
-
-
Holland, E.J.1
Djalilian, A.R.2
Schwartz, G.S.3
-
36
-
-
34447623215
-
Outcomes of Boston keratoprosthesis in aniridia: A retrospective multicenter study
-
Akpek EK, Harissi-Dagher M, Petrarca R, et al. Outcomes of Boston keratoprosthesis in aniridia: A retrospective multicenter study. Am J Ophthalmol 2007;144(2):227-231.
-
(2007)
Am J Ophthalmol
, vol.144
, Issue.2
, pp. 227-231
-
-
Akpek, E.K.1
Harissi-Dagher, M.2
Petrarca, R.3
-
37
-
-
84879117392
-
Treatment of aniridia with Boston type i keratoprosthesis
-
Rixen JJ, Cohen AW, Kitzmann AS, et al. Treatment of aniridia With Boston type I keratoprosthesis. Cornea 2013;32(7):947-950.
-
(2013)
Cornea
, vol.32
, Issue.7
, pp. 947-950
-
-
Rixen, J.J.1
Cohen, A.W.2
Kitzmann, A.S.3
|