-
2
-
-
0030771360
-
Positional cloning of the gene associated with X-linked juvenile retinoschisis
-
Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nature Genetics 1997;17:164-170.
-
(1997)
Nature Genetics
, vol.17
, pp. 164-170
-
-
Sauer, C.G.1
Gehrig, A.2
Warneke-Wittstock, R.3
-
3
-
-
7144253129
-
The Retinoschisis C. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
-
The Retinoschisis Consortium
-
The Retinoschisis C. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. Human Molecular Genetics 1998;7:1185-1192.
-
(1998)
Human Molecular Genetics
, vol.7
, pp. 1185-1192
-
-
-
4
-
-
4344685532
-
A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation
-
Takada Y, Fariss RN, Tanikawa A, et al. A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Investigative Ophthalmology & Visual Science 2004;45:3302-3312.
-
(2004)
Investigative Ophthalmology & Visual Science
, vol.45
, pp. 3302-3312
-
-
Takada, Y.1
Fariss, R.N.2
Tanikawa, A.3
-
5
-
-
33749251133
-
Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout
-
Takada Y, Fariss RN, Muller M, et al. Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Molecular Vision 2006;12:1108-1116.
-
(2006)
Molecular Vision
, vol.12
, pp. 1108-1116
-
-
Takada, Y.1
Fariss, R.N.2
Muller, M.3
-
6
-
-
0032921366
-
Discoidin domain receptors: Structural relations and functional implications
-
Vogel W. Discoidin domain receptors: structural relations and functional implications. FASEB Journal 1999;13 Suppl:S77-82.
-
(1999)
FASEB Journal
, vol.13
, Issue.SUPPL.
-
-
Vogel, W.1
-
7
-
-
15444370833
-
RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer
-
Wu WW, Wong JP, Kast J, et al. RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. Journal of Biological Chemistry 2005;280:10721-10730.
-
(2005)
Journal of Biological Chemistry
, vol.280
, pp. 10721-10730
-
-
Wu, W.W.1
Wong, J.P.2
Kast, J.3
-
8
-
-
0033880515
-
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene
-
Eksandh LC, Ponjavic V, Ayyagari R, et al. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Archives of Ophthalmology 2000;118:1098-1104.
-
(2000)
Archives of Ophthalmology
, vol.118
, pp. 1098-1104
-
-
Eksandh, L.C.1
Ponjavic, V.2
Ayyagari, R.3
-
10
-
-
33748423863
-
Congenital X-linked retinoschisis classification system
-
Prenner JL, Capone A, Jr., Ciaccia S, et al. Congenital X-linked retinoschisis classification system. Retina 2006;26:S61-64.
-
(2006)
Retina
, vol.26
-
-
Prenner, J.L.1
Capone Jr., A.2
Ciaccia, S.3
-
11
-
-
45149109682
-
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography
-
DOI 10.1001/archopht.126.6.807
-
Gerth C, Zawadzki RJ, Werner JS, et al. Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. Archives of Ophthalmology 2008;126:807-811. (Pubitemid 351831330)
-
(2008)
Archives of Ophthalmology
, vol.126
, Issue.6
, pp. 807-811
-
-
Gerth, C.1
Zawadzki, R.J.2
Werner, J.S.3
Heon, E.4
-
12
-
-
0023120528
-
Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis
-
Peachey NS, Fishman GA, Derlacki DJ, et al. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Archives of Ophthalmology 1987;105: 513-516.
-
(1987)
Archives of Ophthalmology
, vol.105
, pp. 513-516
-
-
Peachey, N.S.1
Fishman, G.A.2
Derlacki, D.J.3
-
14
-
-
0033880515
-
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene
-
Eksandh LC, Ponjavic V, Ayyagari R, et al. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Archives of Ophthalmology 2000;118:1098-1104.
-
(2000)
Archives of Ophthalmology
, vol.118
, pp. 1098-1104
-
-
Eksandh, L.C.1
Ponjavic, V.2
Ayyagari, R.3
-
16
-
-
1542361510
-
X-linked retinoschisis: A clinical and molecular genetic review
-
Tantri A, Vrabec TR, Cu-Unjieng A, et al. X-linked retinoschisis: a clinical and molecular genetic review. Survey of Ophthalmology 2004;49:214-230.
-
(2004)
Survey of Ophthalmology
, vol.49
, pp. 214-230
-
-
Tantri, A.1
Vrabec, T.R.2
Cu-Unjieng, A.3
-
17
-
-
59049100882
-
ISCEV Standard for full-field clinical electroretinography (2008 update
-
Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field clinical electroretinography (2008 update). Documenta Ophthalmologica 2009;118:69-77.
-
(2009)
Documenta Ophthalmologica
, vol.118
, pp. 69-77
-
-
Marmor, M.F.1
Fulton, A.B.2
Holder, G.E.3
-
18
-
-
0030094473
-
Imaging localized retinal dysfunction with the multifocal electroretinogram
-
Bearse JMA, Sutter EE. Imaging localized retinal dysfunction with the multifocal electroretinogram. Journal of the Optical Society of America A 1996;13:634-640.
-
(1996)
Journal of the Optical Society of America A
, vol.13
, pp. 634-640
-
-
Jma, B.1
Sutter, E.E.2
-
19
-
-
0026541378
-
The field topography of ERG components in man-I. The photopic luminance response
-
Sutter EE, Tran D. The field topography of ERG components in man-I. The photopic luminance response. Vision Research 1992;32:433.
-
(1992)
Vision Research
, vol.32
, pp. 433
-
-
Sutter, E.E.1
Tran, D.2
-
20
-
-
38649123067
-
ISCEV guidelines for clinical multifocal electroretinography (2007 edition
-
Hood DC, Bach M, Brigell M, et al. ISCEV guidelines for clinical multifocal electroretinography (2007 edition). Documenta Ophthalmologica 2008;116:1-11.
-
(2008)
Documenta Ophthalmologica
, vol.116
, pp. 1-11
-
-
Hood, D.C.1
Bach, M.2
Brigell, M.3
-
21
-
-
58049104570
-
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis
-
Lesch B, Szabo V, Kanya M, et al. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Molecular Vision 2008;14:2321-2332.
-
(2008)
Molecular Vision
, vol.14
, pp. 2321-2332
-
-
Lesch, B.1
Szabo, V.2
Kanya, M.3
-
22
-
-
68049098200
-
Visual acuity norms in pre-school children: The Multi-Ethnic Pediatric Eye Disease Study
-
Pan Y, Tarczy-Hornoch K, Cotter SA, et al. Visual acuity norms in pre-school children: the Multi-Ethnic Pediatric Eye Disease Study. Optometry & Vision Science 2009;86: 607-612.
-
(2009)
Optometry & Vision Science
, vol.86
, pp. 607-612
-
-
Pan, Y.1
Tarczy-Hornoch, K.2
Cotter, S.A.3
-
24
-
-
0035510173
-
A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees
-
Harland M, Mistry S, Bishop DT, et al. A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Human Molecular Genetics 2001;10:2679.
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 2679
-
-
Harland, M.1
Mistry, S.2
Bishop, D.T.3
-
26
-
-
0014038846
-
Sex-linked hereditary juvenile retinoschisis: Presentation of two affected families
-
Bengtsson B, Linder B. Sex-linked hereditary juvenile retinoschisis: presentation of two affected families. Acta Ophthalmologica (Copenh) 1967;45:411-423.
-
(1967)
Acta Ophthalmologica (Copenh
, vol.45
, pp. 411-423
-
-
Bengtsson, B.1
Linder, B.2
-
27
-
-
32044459536
-
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease
-
Eksandh L, Andreasson S, Abrahamson M. Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. Ophthalmic Genetics 2005;26:111-117.
-
(2005)
Ophthalmic Genetics
, vol.26
, pp. 111-117
-
-
Eksandh, L.1
Andreasson, S.2
Abrahamson, M.3
-
28
-
-
39649095431
-
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT
-
Renner AB, Kellner U, Fiebig B, et al. ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Documenta Ophthalmologica 2008;116:97-109.
-
(2008)
Documenta Ophthalmologica
, vol.116
, pp. 97-109
-
-
Renner, A.B.1
Kellner, U.2
Fiebig, B.3
-
29
-
-
70349202354
-
An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis
-
Robson AG, Mengher LS, Tan MH, et al. An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis. Eye (London) 2009;23:1876-1878.
-
(2009)
Eye (London
, vol.23
, pp. 1876-1878
-
-
Robson, A.G.1
Mengher, L.S.2
Tan, M.H.3
-
30
-
-
34648823212
-
Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration
-
Kjellstrom S, Bush RA, Zeng Y et al. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Investigative Ophthalmology & Visual Science 2007;48:3837-3845.
-
(2007)
Investigative Ophthalmology & Visual Science
, vol.48
, pp. 3837-3845
-
-
Kjellstrom, S.1
Bush, R.A.2
Zeng, Y.3
-
31
-
-
39649091008
-
Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; A review and update
-
Robson AG, Michaelides M, Saihan Z, et al. Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Documenta Ophthalmologica 2008;116:79-89.
-
(2008)
Documenta Ophthalmologica
, vol.116
, pp. 79-89
-
-
Robson, A.G.1
Michaelides, M.2
Saihan, Z.3
-
32
-
-
4344674756
-
RS-1 Gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis
-
Zeng Y, Takada Y, Kjellstrom S, et al. RS-1 Gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Investigative Ophthalmology & Visual Science 2004;45:3279-3285.
-
(2004)
Investigative Ophthalmology & Visual Science
, vol.45
, pp. 3279-3285
-
-
Zeng, Y.1
Takada, Y.2
Kjellstrom, S.3
-
33
-
-
25144501446
-
Prolonged recovery of retinal structure/function after gene therapy in an Rs1hdeficient mouse model of x-linked juvenile retinoschisis
-
Min SH, Molday LL, Seeliger MW, et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1hdeficient mouse model of x-linked juvenile retinoschisis. Molecular Therapy 2005;12:644-651.
-
(2005)
Molecular Therapy
, vol.12
, pp. 644-651
-
-
Min, S.H.1
Molday, L.L.2
Seeliger, M.W.3
|