-
1
-
-
0002246046
-
Heredo-retinopathia congenitalis monohybrida recessiva autosomalis
-
Alstrom CH, Olson O. Heredo-retinopathia congenitalis monohybrida recessiva autosomalis. Hereditas 1953; 43:1-178.
-
(1953)
Hereditas
, vol.43
, pp. 1-178
-
-
Alstrom, C.H.1
Olson, O.2
-
3
-
-
0033926132
-
A novel locus for Leber congenital amaurosis maps to chromosome 6q
-
Dharmaraj S, Li Y, Robitaille JM, et al. A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am J Hum Genet 2000; 66:319-326.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 319-326
-
-
Dharmaraj, S.1
Li, Y.2
Robitaille, J.M.3
-
4
-
-
0035004268
-
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
-
Dryja TP, Adams SM, Grimsby JL, et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001; 68:1295-1298.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1295-1298
-
-
Dryja, T.P.1
Adams, S.M.2
Grimsby, J.L.3
-
5
-
-
0032037626
-
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
-
Freund CL, Wang QL, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998; 18:311-312.
-
(1998)
Nat Genet
, vol.18
, pp. 311-312
-
-
Freund, C.L.1
Wang, Q.L.2
Chen, S.3
-
6
-
-
0038412761
-
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36
-
Keen TJ, Mohamed MD, McKibbin M, et al. Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. Eur J Hum Genet 2003; 11:420-423.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 420-423
-
-
Keen, T.J.1
Mohamed, M.D.2
McKibbin, M.3
-
7
-
-
0035090259
-
Mutations in the CRB1 gene cause Leber congenital amaurosis
-
Lotery AJ, Jacobson SG, Fishman GA, et al. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 2001; 119:415-420.
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 415-420
-
-
Lotery, A.J.1
Jacobson, S.G.2
Fishman, G.A.3
-
8
-
-
0031252434
-
Mutations in RPE65 cause Lebers congenital amaurosis
-
Marlhens F, Bareil C, Griffoin JM. Mutations in RPE65 cause Lebers congenital amaurosis. Nat Genet 1997; 17:139-141.
-
(1997)
Nat Genet
, vol.17
, pp. 139-141
-
-
Marlhens, F.1
Bareil, C.2
Griffoin, J.M.3
-
9
-
-
16144363583
-
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
-
Perrault JM, Rozet P, et al. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet 1996; 14:61-64.
-
(1996)
Nat Genet
, vol.14
, pp. 61-64
-
-
Perrault, J.M.1
Rozet, P.2
-
10
-
-
0033985972
-
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
-
Sohocki MM, Bowne SJ, Sullivan LS, et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 2000; 24: 79-83.
-
(2000)
Nat Genet
, vol.24
, pp. 79-83
-
-
Sohocki, M.M.1
Bowne, S.J.2
Sullivan, L.S.3
-
11
-
-
0031702438
-
A novel locus for Leber congenital amaurosis on chromosome 14q24
-
Stockton DW, Lewis RA, Abboud EB. A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet 1998; 103:328-333.
-
(1998)
Hum Genet
, vol.103
, pp. 328-333
-
-
Stockton, D.W.1
Lewis, R.A.2
Abboud, E.B.3
-
12
-
-
51249193206
-
Uber retinitis pigmentosa und angeborene amaurose.
-
Leber T. Uber retinitis pigmentosa und angeborene amaurose. Graefes Arch Clin Exp Ophthalmol 1869; 15:1-25.
-
(1869)
Graefes Arch Clin Exp Ophthalmol
, vol.15
, pp. 1-25
-
-
Leber, T.1
-
13
-
-
0002360225
-
On various recessive biotypes of Leber congenital amaurosis
-
Waardenburg PJ, Schappert-Kimmijser J. On various recessive biotypes of Leber congenital amaurosis. Acta Ophthalmol 1963; 41:317-320.
-
(1963)
Acta Ophthalmol
, vol.41
, pp. 317-320
-
-
Waardenburg, P.J.1
Schappert-Kimmijser, J.2
-
14
-
-
0024519933
-
Visual sensory disorders in congenital nystagmus
-
Weiss AH, Biersdorf WR. Visual sensory disorders in congenital nystagmus. Ophthalmology 1989; 96:517-523.
-
(1989)
Ophthalmology
, vol.96
, pp. 517-523
-
-
Weiss, A.H.1
Biersdorf, W.R.2
-
15
-
-
0345367079
-
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy
-
Kelsell RE, Gregory-Evans K, Payne AM, et al. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet 1998; 7:1179-1184.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1179-1184
-
-
Kelsell, R.E.1
Gregory-Evans, K.2
Payne, A.M.3
-
16
-
-
0033949797
-
A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype
-
Silva E, Yang JM, Li Y, et al. A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype. Invest Ophthalmol Vis Sci 2000; 41:2076-2079.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 2076-2079
-
-
Silva, E.1
Yang, J.M.2
Li, Y.3
-
17
-
-
0032231603
-
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
-
Sohocki MM, Sullivan LS, Mintz-Hittner HA. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet 1998; 63:1307-1315.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1307-1315
-
-
Sohocki, M.M.1
Sullivan, L.S.2
Mintz-Hittner, H.A.3
-
19
-
-
0035722135
-
Lebers congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p
-
Damji KF, Sohocki MM, Khan R, et al. Lebers congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. Can J Ophthalmol 2001; 36:252-259.
-
(2001)
Can J Ophthalmol
, vol.36
, pp. 252-259
-
-
Damji, K.F.1
Sohocki, M.M.2
Khan, R.3
-
20
-
-
16744367868
-
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
-
Sohocki MM, Perrault I, Leroy BP, et al. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab 2000; 70:142-150.
-
(2000)
Mol Genet Metab
, vol.70
, pp. 142-150
-
-
Sohocki, M.M.1
Perrault, I.2
Leroy, B.P.3
-
21
-
-
0033747042
-
Mutational analysis and clinical correlation in Leber congenital amaurosis
-
Dharmaraj SR, Silva ER, Pina AL, et al. Mutational analysis and clinical correlation in Leber congenital amaurosis. Ophthalmic Genet 2000; 21:135-150.
-
(2000)
Ophthalmic Genet
, vol.21
, pp. 135-150
-
-
Dharmaraj, S.R.1
Silva, E.R.2
Pina, A.L.3
-
22
-
-
0034132380
-
Dietary energy source at two feeding levels during lactation of primiparous sows: I. Effects on glucose, insulin, and luteinizing hormone and on follicle development, weaning-to-estrus interval, and ovulation rate
-
van den Brand H, Dieleman SJ, Soede NM, Kemp B. Dietary energy source at two feeding levels during lactation of primiparous sows: I. Effects on glucose, insulin, and luteinizing hormone and on follicle development, weaning-to-estrus interval, and ovulation rate. Acta Ophthalmol Scand 2000; 78:396-404.
-
(2000)
Acta Ophthalmol Scand
, vol.78
, pp. 396-404
-
-
van den Brand, H.1
Dieleman, S.J.2
Soede, N.M.3
Kemp, B.4
-
23
-
-
0032052472
-
Histopathology of the human retina in retinitis pigmentosa
-
Milam AH, Li ZY, Fariss RN. Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res 1998; 17:175-205.
-
(1998)
Prog Retin Eye Res
, vol.17
, pp. 175-205
-
-
Milam, A.H.1
Li, Z.Y.2
Fariss, R.N.3
-
24
-
-
0034081449
-
Selective transplantation of rods delays cone loss in a retinitis pigmentosa model
-
Mohand-Said S, Hicks D, Dreyfus H, Sahel JA. Selective transplantation of rods delays cone loss in a retinitis pigmentosa model. Arch Ophthalmol 2000; 118:807-811.
-
(2000)
Arch Ophthalmol
, vol.118
, pp. 807-811
-
-
Mohand-Said, S.1
Hicks, D.2
Dreyfus, H.3
Sahel, J.A.4
-
25
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001; 28:92-95.
-
(2001)
Nat Genet
, vol.28
, pp. 92-95
-
-
Acland, G.M.1
Aguirre, G.D.2
Ray, J.3
-
26
-
-
33748664605
-
Mutations in CEP290 (NPHP6) gene are a frequent cause of Leber congenital amarosis
-
Hollander AI, et al. Mutations in CEP290 (NPHP6) gene are a frequent cause of Leber congenital amarosis. Am J Hum Genet 2006; 79:556-561.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 556-561
-
-
Hollander, A.I.1
-
27
-
-
33745203504
-
Retinal prosthesis for the blind
-
Javaheri M, et al. Retinal prosthesis for the blind. Ann Acad Med Singapore 2006; 35:137-144.
-
(2006)
Ann Acad Med Singapore
, vol.35
, pp. 137-144
-
-
Javaheri, M.1
-
28
-
-
33846987919
-
Genetic testing for inherited eye disease
-
Stone EM. Genetic testing for inherited eye disease. Arch Ophthalmol 2007; 2:205-212.
-
(2007)
Arch Ophthalmol
, vol.2
, pp. 205-212
-
-
Stone, E.M.1
-
29
-
-
1842425665
-
Outer retinal degeneration: An electronic retinal prosthesis as a treatment strategy
-
Loewenstein JI, et al. Outer retinal degeneration: an electronic retinal prosthesis as a treatment strategy. Arch Ophthalmol 2004; 4:587-596.
-
(2004)
Arch Ophthalmol
, vol.4
, pp. 587-596
-
-
Loewenstein, J.I.1
|