-
1
-
-
33846957381
-
Perspective on genes and mutations causing retinitis pigmentosa
-
Daiger SP, Bowne, SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007;125(2):151-158.
-
(2007)
Arch Ophthalmol
, vol.125
, Issue.2
, pp. 151-158
-
-
Daiger, S.P.1
Bowne, S.J.2
Sullivan, L.S.3
-
3
-
-
84884559802
-
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa
-
Sullivan LS, Bowne SJ, Reeves MJ, et al. Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013;54(9):6255-6261.
-
(2013)
Invest Ophthalmol Vis Sci
, vol.54
, Issue.9
, pp. 6255-6261
-
-
Sullivan, L.S.1
Bowne, S.J.2
Reeves, M.J.3
-
4
-
-
41849140523
-
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
-
Rio Frio T, Wade NM, Ransijn A, et al. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 2008;118(4):1519-1531.
-
(2008)
J Clin Invest
, vol.118
, Issue.4
, pp. 1519-1531
-
-
Rio Frio, T.1
Wade, N.M.2
Ransijn, A.3
-
5
-
-
0141765726
-
Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: A molecular clue for incomplete penetrance
-
Vithana EN, Abu-Safieh L, Pelosini L, et al. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: A molecular clue for incomplete penetrance? Invest Ophthalmol Vis Sci 2003; 44(10):4204-4209.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, Issue.10
, pp. 4204-4209
-
-
Vithana, E.N.1
Abu-Safieh, L.2
Pelosini, L.3
-
6
-
-
0030731399
-
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
-
McGee TL, Devoto M, Ott J, et al. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 1997; 61(5):1059-1066.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.5
, pp. 1059-1066
-
-
McGee, T.L.1
Devoto, M.2
Ott, J.3
-
7
-
-
84922473321
-
Mutations in PremRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium
-
Farkas MH, Lew DS, Sousa ME, et al. Mutations in PremRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol 2014;184(10): 2641-2652.
-
(2014)
Am J Pathol
, vol.184
, Issue.10
, pp. 2641-2652
-
-
Farkas, M.H.1
Lew, D.S.2
Sousa, M.E.3
-
8
-
-
33644877973
-
Shortterm inter-visit variability of ERG amplitudes in normal subjects and patients with retinitis pigmentosa
-
Fishman GA, Chappelow AV, Anderson RJ, et al. Shortterm inter-visit variability of ERG amplitudes in normal subjects and patients with retinitis pigmentosa. Retina 2005;25(8):1014-1021.
-
(2005)
Retina
, vol.25
, Issue.8
, pp. 1014-1021
-
-
Fishman, G.A.1
Chappelow, A.V.2
Anderson, R.J.3
-
9
-
-
44249085878
-
Safety and efficacy of gene transfer for Leber's congenital amaurosis
-
Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008;358(21):2240-2248.
-
(2008)
N Engl J Med
, vol.358
, Issue.21
, pp. 2240-2248
-
-
Maguire, A.M.1
Simonelli, F.2
Pierce, E.A.3
-
10
-
-
21944438607
-
Test-retest reliability of the multifocal electroretinogram and humphrey visual fields in patients with retinitis pigmentosa
-
Seiple W, Clemens CJ, Greenstein VC, et al. Test-retest reliability of the multifocal electroretinogram and humphrey visual fields in patients with retinitis pigmentosa. Doc Ophthalmol 2004;109(3):255-272.
-
(2004)
Doc Ophthalmol
, vol.109
, Issue.3
, pp. 255-272
-
-
Seiple, W.1
Clemens, C.J.2
Greenstein, V.C.3
-
11
-
-
84908700344
-
Wide-field fundus autofluorescence imaging to evaluate retinal function in patients with retinitis pigmentosa
-
Ogura S, Yasukawa T, Kato A, et al. Wide-field fundus autofluorescence imaging to evaluate retinal function in patients with retinitis pigmentosa. Am J Ophthalmol 2014; 158(5):1093-1098.
-
(2014)
Am J Ophthalmol
, vol.158
, Issue.5
, pp. 1093-1098
-
-
Ogura, S.1
Yasukawa, T.2
Kato, A.3
-
12
-
-
0021993263
-
Natural course of retinitis pigmentosa over a three-year interval
-
Berson EL, Sandberg MA, Rosner B, et al. Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 1985;99(3):240-251.
-
(1985)
Am J Ophthalmol
, vol.99
, Issue.3
, pp. 240-251
-
-
Berson, E.L.1
Sandberg, M.A.2
Rosner, B.3
-
13
-
-
0038321445
-
Variability of fullfield electroretinogram responses in subjects without diffuse photoreceptor cell disease
-
Grover S, Fishman GA, Birch DG, et al. Variability of fullfield electroretinogram responses in subjects without diffuse photoreceptor cell disease. Ophthalmology 2003; 110(6):1159-1163.
-
(2003)
Ophthalmology
, vol.110
, Issue.6
, pp. 1159-1163
-
-
Grover, S.1
Fishman, G.A.2
Birch, D.G.3
-
14
-
-
84884559060
-
Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa
-
Birch DG, Locke KG, Wen Y, et al. Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa. JAMA Ophthalmol 2013;131(9):1143-1150.
-
(2013)
JAMA Ophthalmol
, vol.131
, Issue.9
, pp. 1143-1150
-
-
Birch, D.G.1
Locke, K.G.2
Wen, Y.3
-
15
-
-
84912124528
-
A comparison of methods for tracking progression in X-linked retinitis pigmentosa using frequency domain OCT
-
Ramachandran R, Zhou L, Locke KG, et al. A comparison of methods for tracking progression in X-linked retinitis pigmentosa using frequency domain OCT. Transl Vis Sci Technol 2013;2(7):5.
-
(2013)
Transl Vis Sci Technol
, vol.2
, Issue.7
, pp. 5
-
-
Ramachandran, R.1
Zhou, L.2
Locke, K.G.3
-
16
-
-
49049104420
-
A new method to monitor visual field defects caused by photoreceptor degeneration by quantitative optical coherence tomography
-
Fischer MD, Fleischhauer JC, Gillies MC, et al. A new method to monitor visual field defects caused by photoreceptor degeneration by quantitative optical coherence tomography. Invest Ophthalmol Vis Sci 2008;49(8):3617-3621.
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, Issue.8
, pp. 3617-3621
-
-
Fischer, M.D.1
Fleischhauer, J.C.2
Gillies, M.C.3
-
17
-
-
84897051037
-
Retinal gene therapy in patients with choroideremia: Initial findings from a phase 1/2 clinical trial
-
MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia: Initial findings from a phase 1/2 clinical trial. Lancet 2014; 383(9923):1129-1137.
-
(2014)
Lancet
, vol.383
, Issue.9923
, pp. 1129-1137
-
-
MacLaren, R.E.1
Groppe, M.2
Barnard, A.R.3
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