-
1
-
-
0028067898
-
Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes
-
1. Alexandrov K, Horiuchi H, Steele-Mortimoer O, Seabra MC, Zerial M. 1994. Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes. EMBO J. 13:5262-73
-
(1994)
EMBO J.
, vol.13
, pp. 5262-5273
-
-
Alexandrov, K.1
Horiuchi, H.2
Steele-Mortimoer, O.3
Seabra, M.C.4
Zerial, M.5
-
2
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt's macular dystrophy
-
2. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, et al. 1997. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt's macular dystrophy. Nat. Genet. 15:236-46
-
(1997)
Nat. Genet.
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
Shroyer, N.F.4
Hutchinson, A.5
-
3
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
3. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, et al. 1997. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-7
-
(1997)
Science
, vol.277
, pp. 1805-1807
-
-
Allikmets, R.1
Shroyer, N.F.2
Singh, N.3
Seddon, J.M.4
Lewis, R.A.5
-
4
-
-
0000094844
-
Association of G1961E and D2177N variants in the ABCR gene with age-related macular degeneration
-
3a. Allikmets and the International ABCR Screening Consortium. 1999. Association of G1961E and D2177N variants in the ABCR gene with age-related macular degeneration. Invest. Opthalmol. Vis. Sci. 40:S775
-
(1999)
Invest. Opthalmol. Vis. Sci.
, vol.40
-
-
-
5
-
-
17944385621
-
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
-
4. Alward WLM, Fingert JH, Coote MA, Johnson AT, Lerner SF, et al. 1998. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N. Engl. J. Med. 338:1022-27
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 1022-1027
-
-
Alward, W.L.M.1
Fingert, J.H.2
Coote, M.A.3
Johnson, A.T.4
Lerner, S.F.5
-
6
-
-
0026574214
-
Energy metabolism of rabbit retina as related to function: High cost of sodium transport
-
5. Ames A, Li Y-Y, Heher E, Kimble CR. 1992. Energy metabolism of rabbit retina as related to function: high cost of sodium transport. J. Neurosci. 12:840-53
-
(1992)
J. Neurosci.
, vol.12
, pp. 840-853
-
-
Ames, A.1
Li, Y.-Y.2
Heher, E.3
Kimble, C.R.4
-
7
-
-
0027300621
-
cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a rab escort protein
-
6. Andres DA, Seabra MC, Brown MS, Armstrong SA, Smeland TE, et al. 1993. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a rab escort protein. Cell 73: 1091-99
-
(1993)
Cell
, vol.73
, pp. 1091-1099
-
-
Andres, D.A.1
Seabra, M.C.2
Brown, M.S.3
Armstrong, S.A.4
Smeland, T.E.5
-
8
-
-
0030983124
-
The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
-
7. Azarian SM, Travis GH. 1997. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett. 409:247-52
-
(1997)
FEBS Lett.
, vol.409
, pp. 247-252
-
-
Azarian, S.M.1
Travis, G.H.2
-
9
-
-
17144456542
-
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa
-
8. Banerjee P, Kleyn PW, Knowles JA, Lewis CA, Ross BM, et al. 1998. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat. Genet. 18:177-79
-
(1998)
Nat. Genet.
, vol.18
, pp. 177-179
-
-
Banerjee, P.1
Kleyn, P.W.2
Knowles, J.A.3
Lewis, C.A.4
Ross, B.M.5
-
10
-
-
0026770736
-
Molecular cloning of the cDNA for a novel photoreceptor-specific membrane protein (rom-1) identifies a disk rim protein family implicated in human degenerative retinopathies
-
9. Bascom RA, Manara S, Collins L, Molday RS, Kalnins VI, McInnes RR. 1992. Molecular cloning of the cDNA for a novel photoreceptor-specific membrane protein (rom-1) identifies a disk rim protein family implicated in human degenerative retinopathies. Neuron 8:1171-84
-
(1992)
Neuron
, vol.8
, pp. 1171-1184
-
-
Bascom, R.A.1
Manara, S.2
Collins, L.3
Molday, R.S.4
Kalnins, V.I.5
McInnes, R.R.6
-
11
-
-
0027292693
-
The retinal pigment epithelial membrane receptor for plasma retinol binding protein: Isolation and cDNA cloning of a 63 kDa protein
-
10. Bavik CO, Levy F, Hellma U, Wernstedt C, Eriksson U. 1993. The retinal pigment epithelial membrane receptor for plasma retinol binding protein: isolation and cDNA cloning of a 63 kDa protein. J. Biol. Chem. 268:20540-46
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 20540-20546
-
-
Bavik, C.O.1
Levy, F.2
Hellma, U.3
Wernstedt, C.4
Eriksson, U.5
-
12
-
-
0041104621
-
Loss-of-function mutations in a calcium-channel alpha-1 subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
-
11. Bech-Hansen NT, Naylor M, Maybaum TA, Pearce WG, Koop B, et al. 1998. Loss-of-function mutations in a calcium-channel alpha-1 subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat. Genet. 19: 264-67
-
(1998)
Nat. Genet.
, vol.19
, pp. 264-267
-
-
Bech-Hansen, N.T.1
Naylor, M.2
Maybaum, T.A.3
Pearce, W.G.4
Koop, B.5
-
13
-
-
0031740305
-
Molecular dissection of Norrie disease
-
12. Berger W. 1998. Molecular dissection of Norrie disease. Acta Anat. 162:95-100
-
(1998)
Acta Anat.
, vol.162
, pp. 95-100
-
-
Berger, W.1
-
14
-
-
0026878927
-
Isolation of a candidate gene for Norrie disease by positional cloning
-
13. Berger W, Meindl A, van de Pol TJR, Cremers FMP, Ropers HH, et al. 1992. Isolation of a candidate gene for Norrie disease by positional cloning. Nat. Genet. 1:199-203
-
(1992)
Nat. Genet.
, vol.1
, pp. 199-203
-
-
Berger, W.1
Meindl, A.2
Van De Pol, T.J.R.3
Cremers, F.M.P.4
Ropers, H.H.5
-
15
-
-
0030044029
-
An animal model for Norrie disease (ND): Gene targeting of the mouse ND gene
-
14. Berger W, van de Pol D, Bachner D, Oerlemans F, Winkens H, et al. 1996. An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Hum. Mol. Genet. 5:51-59
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 51-59
-
-
Berger, W.1
Van De Pol, D.2
Bachner, D.3
Oerlemans, F.4
Winkens, H.5
-
16
-
-
0026938038
-
Mutations in the candidate gene for Norrie disease
-
15. Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemekers L, et al. 1992. Mutations in the candidate gene for Norrie disease. Hum. Mol. Genet. 1:461-65
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 461-465
-
-
Berger, W.1
Van De Pol, D.2
Warburg, M.3
Gal, A.4
Bleeker-Wagemekers, L.5
-
19
-
-
0027215872
-
A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa
-
18. Berson EL, Rosner B, Sandberg MA, Hayes KC, Nicholson BW, et al. 1993. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch. Ophthalmol. 111:761-72
-
(1993)
Arch. Ophthalmol.
, vol.111
, pp. 761-772
-
-
Berson, E.L.1
Rosner, B.2
Sandberg, M.A.3
Hayes, K.C.4
Nicholson, B.W.5
-
20
-
-
0032900648
-
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
-
19. Bessant DAR, Payne AM, Mitton KP, Wang Q-L, Swain PK, et al. 1999. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat. Genet. 21:355-56
-
(1999)
Nat. Genet.
, vol.21
, pp. 355-356
-
-
Bessant, D.A.R.1
Payne, A.M.2
Mitton, K.P.3
Wang, Q.-L.4
Swain, P.K.5
-
21
-
-
0029035306
-
Retinal photoreceptor dystrophies
-
20. Bird AC. 1995. Retinal photoreceptor dystrophies. Am. J. Ophthalmol. 119:543-62
-
(1995)
Am. J. Ophthalmol.
, vol.119
, pp. 543-562
-
-
Bird, A.C.1
-
23
-
-
0020619770
-
Usher syndrome: Definition and estimate of prevalence from two high-risk populations
-
22. Boughman JA, Vernon M, Shaver KA. 1983. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J. Chronic Dis. 36:595-603
-
(1983)
J. Chronic Dis.
, vol.36
, pp. 595-603
-
-
Boughman, J.A.1
Vernon, M.2
Shaver, K.A.3
-
24
-
-
0022549920
-
A receptor-mediated pathway for cholesterol homeostasis
-
23. Brown MS, Goldstein JL. 1986. A receptor-mediated pathway for cholesterol homeostasis. Science 232:34-47
-
(1986)
Science
, vol.232
, pp. 34-47
-
-
Brown, M.S.1
Goldstein, J.L.2
-
25
-
-
17344363773
-
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
-
24. Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, et al. 1997. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am. J. Hum. Genet. 61:1287-92
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1287-1292
-
-
Buraczynska, M.1
Wu, W.2
Fujita, R.3
Buraczynska, K.4
Phelps, E.5
-
27
-
-
0033066974
-
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
-
26. Burstedt MSI, Sandgren O, Holmgren G, Forsman-Semb K. 1999. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest. Ophthalmol. Vis. Sci. 40:995-1000
-
(1999)
Invest. Ophthalmol. Vis. Sci.
, vol.40
, pp. 995-1000
-
-
Burstedt, M.S.I.1
Sandgren, O.2
Holmgren, G.3
Forsman-Semb, K.4
-
28
-
-
0016134917
-
Congenital stationary night blindness
-
27. Carr RE. 1974. Congenital stationary night blindness. Trans. Am. Ophthalmol. Soc. 72: 448-87
-
(1974)
Trans. Am. Ophthalmol. Soc.
, vol.72
, pp. 448-487
-
-
Carr, R.E.1
-
30
-
-
84984932946
-
Population genetics-making sense out of sequence
-
29. Chakravarti A. 1999. Population genetics-making sense out of sequence. Nat. Genet. 21(Suppl.):56-60
-
(1999)
Nat. Genet.
, vol.21
, Issue.SUPPL.
, pp. 56-60
-
-
Chakravarti, A.1
-
31
-
-
0027521914
-
Apoptosis: Final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice
-
30. Chang GQ, Hao Y, Wong F. 1993. Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. Neuron 11:595-605
-
(1993)
Neuron
, vol.11
, pp. 595-605
-
-
Chang, G.Q.1
Hao, Y.2
Wong, F.3
-
32
-
-
0030781996
-
Crx, a novel otx-like paired-homeodomain protein, binds to and trans-activates photoreceptor cell-specific genes
-
31. Chen S, Wang Q-L, Nie Z, Sun H, Lennon F, et al. 1997. Crx, a novel otx-like paired-homeodomain protein, binds to and trans-activates photoreceptor cell-specific genes. Neuron 19:1017-30
-
(1997)
Neuron
, vol.19
, pp. 1017-1030
-
-
Chen, S.1
Wang, Q.-L.2
Nie, Z.3
Sun, H.4
Lennon, F.5
-
33
-
-
0027367772
-
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
-
32. Chen Z-Y, Battinelli EM, Fiedler A, Bundey S, Sims K, et al. 1993. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat. Genet. 5:180-82
-
(1993)
Nat. Genet.
, vol.5
, pp. 180-182
-
-
Chen, Z.-Y.1
Battinelli, E.M.2
Fiedler, A.3
Bundey, S.4
Sims, K.5
-
34
-
-
0026879015
-
Isolation and characterization of a candidate gene for Norrie disease
-
33. Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Breakefield XO, et al. 1992. Isolation and characterization of a candidate gene for Norrie disease. Nat. Genet. 1:204-8
-
(1992)
Nat. Genet.
, vol.1
, pp. 204-208
-
-
Chen, Z.-Y.1
Hendriks, R.W.2
Jobling, M.A.3
Powell, J.F.4
Breakefield, X.O.5
-
35
-
-
0032499711
-
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man
-
34. Cideciyan AV, Hoo DC, Huang Y, Banin E, Li Z-Y, et al. 1998. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc. Natl. Acad. Sci. USA 95:7103-8
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 7103-7108
-
-
Cideciyan, A.V.1
Hoo, D.C.2
Huang, Y.3
Banin, E.4
Li, Z.-Y.5
-
36
-
-
0031892644
-
Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man
-
35. Cideciyan AV, Zhao X, Nielson L, Khan SC, Jacobson SG, Palczewski K. 1998. Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. Proc. Natl. Acad. Sci. USA 95:328-33
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 328-333
-
-
Cideciyan, A.V.1
Zhao, X.2
Nielson, L.3
Khan, S.C.4
Jacobson, S.G.5
Palczewski, K.6
-
37
-
-
0028914025
-
Defective intracellular transport is the molecular basis of rhodopsin-dependent retinal degeneration
-
36. Colley NJ, Casill JA, Baker EK, Zuker CS. 1995. Defective intracellular transport is the molecular basis of rhodopsin-dependent retinal degeneration. Proc. Natl. Acad. Sci. USA 92:3070-74
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 3070-3074
-
-
Colley, N.J.1
Casill, J.A.2
Baker, E.K.3
Zuker, C.S.4
-
38
-
-
0032561249
-
New goals for the U.S. Human Genome Project: 1998-2003
-
37. Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, et al. 1998. New goals for the U.S. Human Genome Project: 1998-2003. Science 282:682-89
-
(1998)
Science
, vol.282
, pp. 682-689
-
-
Collins, F.S.1
Patrinos, A.2
Jordan, E.3
Chakravarti, A.4
Gesteland, R.5
-
39
-
-
0025371311
-
Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disc membrane
-
38. Connell G, Molday RS. 1990. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disc membrane. Biochemistry 29:4691-98
-
(1990)
Biochemistry
, vol.29
, pp. 4691-4698
-
-
Connell, G.1
Molday, R.S.2
-
40
-
-
0028040141
-
REP 2, a Rab escort protein encoded by the choroideremia-like gene
-
39. Cremers FPM, Armstrong SA, Seabra MC, Brown MS, Goldstein JL. 1994. REP 2, a Rab escort protein encoded by the choroideremia-like gene. J. Biol. Chem. 269:2111-17
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 2111-2117
-
-
Cremers, F.P.M.1
Armstrong, S.A.2
Seabra, M.C.3
Brown, M.S.4
Goldstein, J.L.5
-
42
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
41. Cremers FPM, van de Pol DJR, van Driel M, den Hollander AI, van Haren FJJ, et al. 1998. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Mol. Genet. 7: 355-62
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 355-362
-
-
Cremers, F.P.M.1
Van De Pol, D.J.R.2
Van Driel, M.3
Den Hollander, A.I.4
Van Haren, F.J.J.5
-
43
-
-
0025064847
-
Cloning of a gene that is rearranged in patients with choroideremia
-
42. Cremers FPM, van de Pol DJR, van Kerkhoff LPM, Wieringa B, Ropers H-H. 1990. Cloning of a gene that is rearranged in patients with choroideremia. Nature 347:674-77
-
(1990)
Nature
, vol.347
, pp. 674-677
-
-
Cremers, F.P.M.1
Van De Pol, D.J.R.2
Van Kerkhoff, L.P.M.3
Wieringa, B.4
Ropers, H.-H.5
-
44
-
-
0015735242
-
Vertebrate rod outer segment membranes
-
43. Daemen FJM. 1973. Vertebrate rod outer segment membranes. Biochem. Biophys. Acta 300:255-88
-
(1973)
Biochem. Biophys. Acta
, vol.300
, pp. 255-288
-
-
Daemen, F.J.M.1
-
46
-
-
0030591673
-
A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa
-
45. Danciger M, Heilbron V, Gao YQ, Zhao DY, Jacobson SG, Farber DB. 1996. A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa. Mol Vis. 2:10
-
(1996)
Mol Vis.
, vol.2
, pp. 10
-
-
Danciger, M.1
Heilbron, V.2
Gao, Y.Q.3
Zhao, D.Y.4
Jacobson, S.G.5
Farber, D.B.6
-
47
-
-
0026411121
-
Mizuo phenomenon in X-linked retinoschisis
-
46. de Jong RTVM, Zrenner E, van Meel GJ, Kennen JEE, van Norren D. 1991. Mizuo phenomenon in X-linked retinoschisis. Arch. Ophthalmol. 104:1104-8
-
(1991)
Arch. Ophthalmol.
, vol.104
, pp. 1104-1108
-
-
De Jong, R.T.V.M.1
Zrenner, E.2
Van Meel, G.J.3
Kennen, J.E.E.4
Van Norren, D.5
-
48
-
-
0032514681
-
Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
-
47. de la Chapelle A, Wright FA. 1998. Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc. Natl. Acad. Sci. USA 95:12416-23
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 12416-12423
-
-
De La Chapelle, A.1
Wright, F.A.2
-
49
-
-
0029788635
-
Localization of TIMP-3 mRNA expression to the retinal pigment epithelium
-
48. Delia NG, Campochiaro P, Zack DJ. 1996. Localization of TIMP-3 mRNA expression to the retinal pigment epithelium. Invest. Ophthalmol. Vis. Sci. 37:1921-24
-
(1996)
Invest. Ophthalmol. Vis. Sci.
, vol.37
, pp. 1921-1924
-
-
Delia, N.G.1
Campochiaro, P.2
Zack, D.J.3
-
50
-
-
0032168064
-
Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA
-
49. Deretic D, Schmerl S, Hargrave PA, Arendt A, McDowell JH. 1998. Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA. Proc. Natl. Acad. Sci. USA 95:10620-25
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 10620-10625
-
-
Deretic, D.1
Schmerl, S.2
Hargrave, P.A.3
Arendt, A.4
McDowell, J.H.5
-
51
-
-
0032504145
-
Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1
-
50. Dizhoor AM, Boikov SG, Olshevskaya EV. 1998. Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. J. Biol. Chem. 273:17311-14
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 17311-17314
-
-
Dizhoor, A.M.1
Boikov, S.G.2
Olshevskaya, E.V.3
-
52
-
-
0028360657
-
The human photoreceptor membrane guanylate cyclase, ret GC, is present in outer segments and is regulated by calcium and soluble activator
-
51. Dizhoor AM, Lowe DG, Olshevskaya EV, Laura R, Hurley JB. 1994. The human photoreceptor membrane guanylate cyclase, ret GC, is present in outer segments and is regulated by calcium and soluble activator. Neuron 12:1345-52
-
(1994)
Neuron
, vol.12
, pp. 1345-1352
-
-
Dizhoor, A.M.1
Lowe, D.G.2
Olshevskaya, E.V.3
Laura, R.4
Hurley, J.B.5
-
53
-
-
0025306687
-
Role of the intradiscal domain in rhodopsin assembly and function
-
52. Doi T, Molday RS, Khorana HG. 1990. Role of the intradiscal domain in rhodopsin assembly and function. Proc. Natl. Acad. Sci. USA 87:4991-95
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 4991-4995
-
-
Doi, T.1
Molday, R.S.2
Khorana, H.G.3
-
54
-
-
0030665794
-
Gene-based approach to human gene-phenotype correlations
-
53. Dryja TR, 1997. Gene-based approach to human gene-phenotype correlations. Proc. Natl. Acad. Sci. USA 94:12117-21
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 12117-12121
-
-
Dryja, T.R.1
-
55
-
-
0027248024
-
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
-
54. Dryja TP, Berson EL, Rao VR, Oprian DD. 1993. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat. Genet. 4:280-83
-
(1993)
Nat. Genet.
, vol.4
, pp. 280-283
-
-
Dryja, T.P.1
Berson, E.L.2
Rao, V.R.3
Oprian, D.D.4
-
56
-
-
0028820045
-
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
-
55. Dryja TP, Finn JT, Peng Y-W, McGee TL, Berson EL, Yau K-W. 1995. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92:10177-81
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 10177-10181
-
-
Dryja, T.P.1
Finn, J.T.2
Peng, Y.-W.3
McGee, T.L.4
Berson, E.L.5
Yau, K.-W.6
-
57
-
-
0025990215
-
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
-
56. Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL. 1991. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88:9370-74
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 9370-9374
-
-
Dryja, T.P.1
Hahn, L.B.2
Cowley, G.S.3
McGee, T.L.4
Berson, E.L.5
-
58
-
-
0030931136
-
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa
-
57. Dryja TP, Hahn LB, Kajiwara K, Berson EL. 1997. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 38:1972-82
-
(1997)
Invest. Ophthalmol. Vis. Sci.
, vol.38
, pp. 1972-1982
-
-
Dryja, T.P.1
Hahn, L.B.2
Kajiwara, K.3
Berson, E.L.4
-
59
-
-
0029902034
-
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness
-
58. Dryja TP, Hahn LB, Reboul T, Arnaud B. 1996. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat. Genet. 13:358-60
-
(1996)
Nat. Genet.
, vol.13
, pp. 358-360
-
-
Dryja, T.P.1
Hahn, L.B.2
Reboul, T.3
Arnaud, B.4
-
60
-
-
0029088343
-
Molecular genetics of retinitis pigmentosa
-
59. Dryja TP, Li T. 1995. Molecular genetics of retinitis pigmentosa. Hum. Mol. Genet. 4:1739-43
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1739-1743
-
-
Dryja, T.P.1
Li, T.2
-
61
-
-
0025105161
-
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
-
60. Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, et al. 1990. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343:364-66
-
(1990)
Nature
, vol.343
, pp. 364-366
-
-
Dryja, T.P.1
McGee, T.L.2
Reichel, E.3
Hahn, L.B.4
Cowley, G.S.5
-
62
-
-
0029794058
-
Human Usher 1B/mouse shaker-1: The retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells
-
61. El-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C. 1996. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum. Mol. Genet. 5:1171-78
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1171-1178
-
-
El-Amraoui, A.1
Sahly, I.2
Picaud, S.3
Sahel, J.4
Abitbol, M.5
Petit, C.6
-
63
-
-
0032511101
-
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
-
62. Eudy JID, Weston MID, Yao SF, Hoover DM, Rehm HL, et al. 1998. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753-57
-
(1998)
Science
, vol.280
, pp. 1753-1757
-
-
Eudy, J.I.D.1
Weston, M.I.D.2
Yao, S.F.3
Hoover, D.M.4
Rehm, H.L.5
-
64
-
-
0028890926
-
From mice to men: The cyclic GMP phosphodiesterase gene in vision and disease
-
63. Farber DB. 1995. From mice to men: the cyclic GMP phosphodiesterase gene in vision and disease. Invest. Ophthalmol. Vis. Sci. 36:263-75
-
(1995)
Invest. Ophthalmol. Vis. Sci.
, vol.36
, pp. 263-275
-
-
Farber, D.B.1
-
65
-
-
0030813163
-
Identification of genes causing photoreceptor degenerations leading to blindness
-
64. Farber DB, Danciger M. 1997. Identification of genes causing photoreceptor degenerations leading to blindness. Curr. Opin. Neurobiol. 7:666-73
-
(1997)
Curr. Opin. Neurobiol.
, vol.7
, pp. 666-673
-
-
Farber, D.B.1
Danciger, M.2
-
66
-
-
0031726862
-
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa
-
65. Fariss RN, Apte SS, Luthert PJ, Bird AC, Milam AH. 1998. Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. Br. J. Ophthalmol. 82:1329-34
-
(1998)
Br. J. Ophthalmol.
, vol.82
, pp. 1329-1334
-
-
Fariss, R.N.1
Apte, S.S.2
Luthert, P.J.3
Bird, A.C.4
Milam, A.H.5
-
67
-
-
0031013169
-
Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of the eye
-
66. Fariss RN, Apte SS, Olsen BR, Iwata K, Milarn AH. 1997. Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of the eye. Am. J. Pathol. 150:323-28
-
(1997)
Am. J. Pathol.
, vol.150
, pp. 323-328
-
-
Fariss, R.N.1
Apte, S.S.2
Olsen, B.R.3
Iwata, K.4
Milarn, A.H.5
-
68
-
-
0020599803
-
Usher's syndrome
-
67. Fishman GA, Kumar A, Joseph ME, Torok N, Anderson RJ. 1983. Usher's syndrome. Arch. Ophthalmol. 101:1367-74
-
(1983)
Arch. Ophthalmol.
, vol.101
, pp. 1367-1374
-
-
Fishman, G.A.1
Kumar, A.2
Joseph, M.E.3
Torok, N.4
Anderson, R.J.5
-
69
-
-
0019436216
-
Congenital X-linked incomplete achromatopsia: Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus
-
68. Fleischman JA, O'Donnell FE. 1981. Congenital X-linked incomplete achromatopsia: evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. Arch. Ophthalmol. 99:468-72
-
(1981)
Arch. Ophthalmol.
, vol.99
, pp. 468-472
-
-
Fleischman, J.A.1
O'Donnell, F.E.2
-
70
-
-
0013898525
-
Genetics and primary open-angle glaucoma
-
68a. Francois J. 1966. Genetics and primary open-angle glaucoma. Am. J. Ophthalmol 61:652-65
-
(1966)
Am. J. Ophthalmol
, vol.61
, pp. 652-665
-
-
Francois, J.1
-
71
-
-
0032984709
-
Glaucoma genetics, present and future
-
68b. Friedman JS, Walter MA. 1999. Glaucoma genetics, present and future. Clin. Genet. 55:71-79
-
(1999)
Clin. Genet.
, vol.55
, pp. 71-79
-
-
Friedman, J.S.1
Walter, M.A.2
-
72
-
-
0030669568
-
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
-
69. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, et al. 1997. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91:543-53
-
(1997)
Cell
, vol.91
, pp. 543-553
-
-
Freund, C.L.1
Gregory-Evans, C.Y.2
Furukawa, T.3
Papaioannou, M.4
Looser, J.5
-
73
-
-
0029790558
-
Transcription factor genes and the developing eye: A genetic perspective
-
70. Freund C, Horsford DJ, McInnes RR. 1996. Transcription factor genes and the developing eye: a genetic perspective. Hum. Mol. Genet. 5:1471-88
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1471-1488
-
-
Freund, C.1
Horsford, D.J.2
McInnes, R.R.3
-
74
-
-
0032037626
-
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
-
71. Freund CL, Wang Q-L, Chen S, Muskat BL, Wiles CD, et al. 1998. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat. Genet. 18:311-12
-
(1998)
Nat. Genet.
, vol.18
, pp. 311-312
-
-
Freund, C.L.1
Wang, Q.-L.2
Chen, S.3
Muskat, B.L.4
Wiles, C.D.5
-
75
-
-
0029067542
-
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
-
72. Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A. 1995. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat. Genet. 10:360-62
-
(1995)
Nat. Genet.
, vol.10
, pp. 360-362
-
-
Fuchs, S.1
Nakazawa, M.2
Maw, M.3
Tamai, M.4
Oguchi, Y.5
Gal, A.6
-
76
-
-
16944362660
-
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families
-
73. Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, et al. 1997. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am. J. Hum. Genet. 61:571-80
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 571-580
-
-
Fujita, R.1
Buraczynska, M.2
Gieser, L.3
Wu, W.4
Forsythe, P.5
-
77
-
-
0030725687
-
Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
-
74. Furukawa T, Morrow EM, Cepko CL. 1997. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 91:531-41
-
(1997)
Cell
, vol.91
, pp. 531-541
-
-
Furukawa, T.1
Morrow, E.M.2
Cepko, C.L.3
-
78
-
-
0008877068
-
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
-
75. Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. 1994. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat. Genet. 13:358-60
-
(1994)
Nat. Genet.
, vol.13
, pp. 358-360
-
-
Gal, A.1
Orth, U.2
Baehr, W.3
Schwinger, E.4
Rosenberg, T.5
-
79
-
-
0029944275
-
Structure and function in rhodopsin: Correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation leu125-arg in the transmembrane helix C
-
76. Garriga P, Liu X, Khorana HG. 1996. Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation leu125-arg in the transmembrane helix C. Proc. Natl. Acad. Sci. USA 93:4560-64
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 4560-4564
-
-
Garriga, P.1
Liu, X.2
Khorana, H.G.3
-
80
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
77. Gibson F, Walsh J, Mburu P, Varela A, Brown KA, et al. 1995. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374:62-64
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
Varela, A.4
Brown, K.A.5
-
81
-
-
0032512412
-
Cysteine residues of photoreceptor peripherin/rds: Role in subunit assembly and autosomal dominant retinitis pigmentosa
-
78. Goldberg AFX, Loewen CJ, Molday RS. 1998. Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa. Biochemistry 37:680-85
-
(1998)
Biochemistry
, vol.37
, pp. 680-685
-
-
Goldberg, A.F.X.1
Loewen, C.J.2
Molday, R.S.3
-
82
-
-
0030474177
-
Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1
-
79. Goldberg AFX, Molday RS. 1996. Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Proc. Natl. Acad. Sci. USA 93:13726-30
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 13726-13730
-
-
Goldberg, A.F.X.1
Molday, R.S.2
-
83
-
-
0029942496
-
Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: Hydrodynamic evidence for a tetrameric quaternary structure
-
80. Goldberg AFX, Molday RS. 1996. Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure. Biochemistry 35:6144-49
-
(1996)
Biochemistry
, vol.35
, pp. 6144-6149
-
-
Goldberg, A.F.X.1
Molday, R.S.2
-
84
-
-
0028880438
-
Heterologous expression of photoreceptor peripherin/rds and rom-1 in COS-1 cells: Assembly, interactions and localization of multisubunit complexes
-
81. Goldberg AFX, Moritz OL, Molday RS. 1995. Heterologous expression of photoreceptor peripherin/rds and rom-1 in COS-1 cells: assembly, interactions and localization of multisubunit complexes. Biochemistry 34:14213-19
-
(1995)
Biochemistry
, vol.34
, pp. 14213-14219
-
-
Goldberg, A.F.X.1
Moritz, O.L.2
Molday, R.S.3
-
85
-
-
0029102831
-
Guanylyl cyclase activating protein: A calcium-sensitive regulator of phototransduction
-
82. Gorczyna WA, Polans AS, Surgucheva IG, Subbaraya I, Baehr W, Palczewski K. 1995. Guanylyl cyclase activating protein: a calcium-sensitive regulator of phototransduction. J. Biol. Chem. 270:22029-36
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 22029-22036
-
-
Gorczyna, W.A.1
Polans, A.S.2
Surgucheva, I.G.3
Subbaraya, I.4
Baehr, W.5
Palczewski, K.6
-
86
-
-
0028871764
-
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein
-
83. Gotoda T, Arita M, Arai H, Inoue K, Yokota, et al. 1995. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N. Engl. J. Med. 333:1313-18
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 1313-1318
-
-
Gotoda, T.1
Arita, M.2
Arai, H.3
Inoue, K.4
Yokota5
-
87
-
-
0031966698
-
Genetic blindness: Current concepts in the pathogenesis of human outer retinal dystrophies
-
84. Gregory-Evans K, Bhattacharya SS. 1998. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 14:103-8
-
(1998)
Trends Genet.
, vol.14
, pp. 103-108
-
-
Gregory-Evans, K.1
Bhattacharya, S.S.2
-
88
-
-
0031255068
-
Mutations in RPE65 cause autosomal recessive childhood severe onset retinal dystrophy
-
85. Gu S-M, Thompson DA, Srikumari CRS, Lorenz B, Finckh U, et al. 1997. Mutations in RPE65 cause autosomal recessive childhood severe onset retinal dystrophy. Nat. Genet. 17:194-97
-
(1997)
Nat. Genet.
, vol.17
, pp. 194-197
-
-
Gu, S.-M.1
Thompson, D.A.2
Srikumari, C.R.S.3
Lorenz, B.4
Finckh, U.5
-
89
-
-
0031672085
-
Population genomics: Laying the groundwork for genetic disease modeling and targeting
-
86. Gulcher J, Stefansson K. 1998. Population genomics: laying the groundwork for genetic disease modeling and targeting. Clin. Chem. Lab. Med. 36:523-27
-
(1998)
Clin. Chem. Lab. Med.
, vol.36
, pp. 523-527
-
-
Gulcher, J.1
Stefansson, K.2
-
90
-
-
0031942582
-
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa
-
87. Hagstrom SA, North MA, Nishina PM, Berson EL, Dryja TR. 1998. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat. Genet. 18:174-76
-
(1998)
Nat. Genet.
, vol.18
, pp. 174-176
-
-
Hagstrom, S.A.1
North, M.A.2
Nishina, P.M.3
Berson, E.L.4
Dryja, T.R.5
-
91
-
-
0027242119
-
Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-translationally regulated in vitro
-
88. Hamel CR, Tsilou E, Pfeffier BA, Hooks JJ, Detrick B, Redmond TM. 1993. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-translationally regulated in vitro. J. Biol. Chem. 268:15751-57
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 15751-15757
-
-
Hamel, C.R.1
Tsilou, E.2
Pfeffier, B.A.3
Hooks, J.J.4
Detrick, B.5
Redmond, T.M.6
-
93
-
-
0022295906
-
Development and degeneration of retina in rds mutant mice: Photoreceptor abnormalities in heterozygotes
-
90. Hawkins RK, Jansen HG, Sanyal S. 1985. Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in heterozygotes. Exp. Eye Res. 41: 7011-20
-
(1985)
Exp. Eye Res.
, vol.41
, pp. 7011-7020
-
-
Hawkins, R.K.1
Jansen, H.G.2
Sanyal, S.3
-
97
-
-
0022502831
-
X-linked recessive cone dystrophy with tapetal-like sheen: A newly recognized entity with Mizuo-Nakamura phenomenon
-
94. Heckenlively JR, Weleber RG. 1986. X-linked recessive cone dystrophy with tapetal-like sheen: a newly recognized entity with Mizuo-Nakamura phenomenon. Arch. Ophthalmol. 104:1322-28
-
(1986)
Arch. Ophthalmol.
, vol.104
, pp. 1322-1328
-
-
Heckenlively, J.R.1
Weleber, R.G.2
-
98
-
-
0028948087
-
Optical coherence tomography of the human retina
-
95. Hee MR, Izatt JA, Swanson EA, Huang D, Schuman JS, et al. 1995. Optical coherence tomography of the human retina. Arch. Ophthalmol. 113:325-32
-
(1995)
Arch. Ophthalmol.
, vol.113
, pp. 325-332
-
-
Hee, M.R.1
Izatt, J.A.2
Swanson, E.A.3
Huang, D.4
Schuman, J.S.5
-
99
-
-
0028298094
-
Sibling correlations and segregation analysis of age-related maculopathy: The Beaver Dam eye study
-
96. Heiba IM, Elston RC, Klein BEK, Klein R. 1994. Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam eye study. Genet. Epidemiol. 11:51-67
-
(1994)
Genet. Epidemiol.
, vol.11
, pp. 51-67
-
-
Heiba, I.M.1
Elston, R.C.2
Klein, B.E.K.3
Klein, R.4
-
100
-
-
0015793631
-
Recovery of cone receptor activity in the frog's isolated retina
-
97. Hood DC, Hock PA. 1973. Recovery of cone receptor activity in the frog's isolated retina. Vis. Res. 13:1943-51
-
(1973)
Vis. Res.
, vol.13
, pp. 1943-1951
-
-
Hood, D.C.1
Hock, P.A.2
-
101
-
-
0020403037
-
Reversible neurological symptoms caused by vitamin E deficiency in a patient with short bowel syndrome
-
98. Howard L, Ovesen L, Satya-Murti S, Chu R. 1982. Reversible neurological symptoms caused by vitamin E deficiency in a patient with short bowel syndrome. Am. J. Clin. Nutr. 36:1243-49
-
(1982)
Am. J. Clin. Nutr.
, vol.36
, pp. 1243-1249
-
-
Howard, L.1
Ovesen, L.2
Satya-Murti, S.3
Chu, R.4
-
102
-
-
0030806721
-
Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve
-
99. Howell N. 1996. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vis. Res. 37:3495-507
-
(1996)
Vis. Res.
, vol.37
, pp. 3495-3507
-
-
Howell, N.1
-
103
-
-
18244420029
-
Gene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2
-
100. Howes K, Bronson JD, Dang LY, Li N, Zhang K, et al. 1998. Gene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2. Invest. Ophthalmol. Vis. Sci. 39:867-75
-
(1998)
Invest. Ophthalmol. Vis. Sci.
, vol.39
, pp. 867-875
-
-
Howes, K.1
Bronson, J.D.2
Dang, L.Y.3
Li, N.4
Zhang, K.5
-
104
-
-
0026254046
-
Optical coherence tomography
-
101. Huang D, Swanson EA, Lin CP, Schuman JS, Stinson WG, et al. 1991. Optical coherence tomography. Science 254:1178-81
-
(1991)
Science
, vol.254
, pp. 1178-1181
-
-
Huang, D.1
Swanson, E.A.2
Lin, C.P.3
Schuman, J.S.4
Stinson, W.G.5
-
105
-
-
0027260657
-
Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin
-
102. Huang PC, Gaitan AE, Hao Y, Petters RM, Wong F. 1993. Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin. Proc. Natl. Acad. Sci. USA 90:8484-89
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 8484-8489
-
-
Huang, P.C.1
Gaitan, A.E.2
Hao, Y.3
Petters, R.M.4
Wong, F.5
-
106
-
-
0028789921
-
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
-
103. Huang SH, Pittler SJ, Huang X, Oliviera L, Berson EL, Dryja TR. 1995. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat. Genet. 11:468-71
-
(1995)
Nat. Genet.
, vol.11
, pp. 468-471
-
-
Huang, S.H.1
Pittler, S.J.2
Huang, X.3
Oliviera, L.4
Berson, E.L.5
Dryja, T.R.6
-
107
-
-
0008882006
-
The thermal stability of rhodopsin and opsin
-
104. Hubbard R. 1958. The thermal stability of rhodopsin and opsin. J. Gen. Physiol. 42:259-80
-
(1958)
J. Gen. Physiol.
, vol.42
, pp. 259-280
-
-
Hubbard, R.1
-
108
-
-
0031045876
-
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
-
105. Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, et al. 1997. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat. Genet. 15:216-19
-
(1997)
Nat. Genet.
, vol.15
, pp. 216-219
-
-
Humphries, M.M.1
Rancourt, D.2
Farrar, G.J.3
Kenna, P.4
Hazel, M.5
-
109
-
-
0021710984
-
Alpha-tocopherol in the developing rat retina: A high pressure liquid chromatographic analysis
-
106. Hunt DF, Organisciak DT, Wang HM, Wu RL. 1984. Alpha-tocopherol in the developing rat retina: a high pressure liquid chromatographic analysis. Curr. Eye Res. 3:1281-88
-
(1984)
Curr. Eye Res.
, vol.3
, pp. 1281-1288
-
-
Hunt, D.F.1
Organisciak, D.T.2
Wang, H.M.3
Wu, R.L.4
-
111
-
-
0030969303
-
The 220 kDa rim protein of retinal rod outer segments is a member of the ABC transporter super family
-
108. Illing M, Molday LL, Molday RS. 1997. The 220 kDa rim protein of retinal rod outer segments is a member of the ABC transporter super family. J. Biol. Chem. 272:10303-10
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 10303-10310
-
-
Illing, M.1
Molday, L.L.2
Molday, R.S.3
-
112
-
-
0031959835
-
A linkage survey of 20 dominant retinitis pigmentosa families: Frequency of the nine known loci and evidence for further heterogeneity
-
109. Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, Al-Maghtheh M, et al. 1998. A linkage survey of 20 dominant retinitis pigmentosa families: frequency of the nine known loci and evidence for further heterogeneity. J. Med. Genet. 35:1-5
-
(1998)
J. Med. Genet.
, vol.35
, pp. 1-5
-
-
Inglehearn, C.F.1
Tarttelin, E.E.2
Plant, C.3
Peacock, R.E.4
Al-Maghtheh, M.5
-
113
-
-
0031790083
-
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene
-
110. Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, et al. 1998. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest. Ophthalmol. Vis. Sci. 39:2417-26
-
(1998)
Invest. Ophthalmol. Vis. Sci.
, vol.39
, pp. 2417-2426
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Huang, Y.3
Hanna, D.B.4
Freund, C.L.5
-
114
-
-
0029114249
-
Night blindness in Sorsby's fundus dystrophy is reversed by vitamin A
-
111. Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, et al. 1995. Night blindness in Sorsby's fundus dystrophy is reversed by vitamin A. Nat. Genet. 11:27-32
-
(1995)
Nat. Genet.
, vol.11
, pp. 27-32
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Regunath, G.3
Rodriguez, F.J.4
Vandenburgh, K.5
-
115
-
-
0029638664
-
Mitochondrial DNA and disease
-
112. Johns DR. 1995. Mitochondrial DNA and disease. N. Engl. J. Med. 333:638-44
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 638-644
-
-
Johns, D.R.1
-
116
-
-
0024357993
-
Retinoid requirements for recovery of sensitivity after visual pigment bleaching in isolated photoreceptors
-
113. Jones GJ, Crouch RK, Wiggert B, Cornwall MC, Chader GJ. 1989. Retinoid requirements for recovery of sensitivity after visual pigment bleaching in isolated photoreceptors. Proc. Natl. Acad. Sci. USA 86:9606-10
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 9606-9610
-
-
Jones, G.J.1
Crouch, R.K.2
Wiggert, B.3
Cornwall, M.C.4
Chader, G.J.5
-
117
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
114. Kajiwara K, Berson EL, Dryja TR. 1994. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604-8
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.R.3
-
118
-
-
0026610741
-
Role of cGMP and calcium in vertebrate photoreceptor excitation and adaptation
-
115. Kaupp UB, Koch KW. 1992. Role of cGMP and calcium in vertebrate photoreceptor excitation and adaptation. Annu. Rev. Physiol. 54:153-75
-
(1992)
Annu. Rev. Physiol.
, vol.54
, pp. 153-175
-
-
Kaupp, U.B.1
Koch, K.W.2
-
119
-
-
0028287273
-
Structure and function in rhodopsin: Point mutations associated with autosomal dominant retinitis pigmentosa
-
116. Kaushel S, Khorana HG. 1994. Structure and function in rhodopsin: point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry 33:6121-28
-
(1994)
Biochemistry
, vol.33
, pp. 6121-6128
-
-
Kaushel, S.1
Khorana, H.G.2
-
120
-
-
0032101737
-
Non-cell-autonomous photoreceptor degeneration in rds mutant mice mosaic for expression of a rescue transgene
-
117. Kedzierski W, Bok D, Travis GH. 1998. Non-cell-autonomous photoreceptor degeneration in rds mutant mice mosaic for expression of a rescue transgene. J. Neurosci. 18:4076-82
-
(1998)
J. Neurosci.
, vol.18
, pp. 4076-4082
-
-
Kedzierski, W.1
Bok, D.2
Travis, G.H.3
-
121
-
-
0029842023
-
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
-
118. Keen TJ, Inglehearn CF. 1996. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Hum. Mutat. 8:297-303
-
(1996)
Hum. Mutat.
, vol.8
, pp. 297-303
-
-
Keen, T.J.1
Inglehearn, C.F.2
-
122
-
-
0345367079
-
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy
-
119. Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, et al. 1998. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum. Mol. Genet. 7:1179-84
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1179-1184
-
-
Kelsell, R.E.1
Gregory-Evans, K.2
Payne, A.M.3
Perrault, I.4
Kaplan, J.5
-
123
-
-
15844372440
-
Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family
-
120. Kleyn PW, Fan W, Kovats SG, Lee JJ, Pulido JC, et al. 1996. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell 85:281-90
-
(1996)
Cell
, vol.85
, pp. 281-290
-
-
Kleyn, P.W.1
Fan, W.2
Kovats, S.G.3
Lee, J.J.4
Pulido, J.C.5
-
124
-
-
0031803762
-
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
-
121. Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, et al. 1998. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat. Genet. 19:257-59
-
(1998)
Nat. Genet.
, vol.19
, pp. 257-259
-
-
Kohl, S.1
Marx, T.2
Giddings, I.3
Jagle, H.4
Jacobson, S.G.5
-
125
-
-
10544245684
-
The bZIP transcription factor Nr1 stimulates rhodopsin promotor activity in primary retinal cell cultures
-
122. Kumar R, Chen S, Scheurer D, Wang QL, Duh E, et al. 1996. The bZIP transcription factor Nr1 stimulates rhodopsin promotor activity in primary retinal cell cultures. J. Biol. Chem. 271:29612-18
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 29612-29618
-
-
Kumar, R.1
Chen, S.2
Scheurer, D.3
Wang, Q.L.4
Duh, E.5
-
126
-
-
0028947292
-
Retinal degeneration caused by dominant rhodopsin mutants in Drosophila
-
123. Kurada P, O'Tousa JE. 1995. Retinal degeneration caused by dominant rhodopsin mutants in Drosophila. Neuron 14:571-79
-
(1995)
Neuron
, vol.14
, pp. 571-579
-
-
Kurada, P.1
O'Tousa, J.E.2
-
127
-
-
0028237708
-
Structural determinants for the activation of the alpha subunit of a heterotrimeric G-protein
-
124. Lambright DG, Noel J, Hamm HE, Sigler PB. 1994. Structural determinants for the activation of the alpha subunit of a heterotrimeric G-protein. Nature 369:621-28
-
(1994)
Nature
, vol.369
, pp. 621-628
-
-
Lambright, D.G.1
Noel, J.2
Hamm, H.E.3
Sigler, P.B.4
-
128
-
-
0028090414
-
Genetic dissection of complex traits
-
125. Lander E, Schork N. 1994. Genetic dissection of complex traits. Science 265: 2037-48
-
(1994)
Science
, vol.265
, pp. 2037-2048
-
-
Lander, E.1
Schork, N.2
-
129
-
-
0032479305
-
Localization of the functional domains of human tissue inhibitor of metalloproteinase-3 and the effects of a Sorsby's fundus dystrophy mutation
-
126. Langton KP, Barker MID, McKie N. 1998. Localization of the functional domains of human tissue inhibitor of metalloproteinase-3 and the effects of a Sorsby's fundus dystrophy mutation. J. Biol. Chem. 273:16778-81
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 16778-16781
-
-
Langton, K.P.1
Barker, M.I.D.2
McKie, N.3
-
130
-
-
15844405616
-
The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain
-
127. Laura RP, Dizhoor AM, Hurley JB. 1996. The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain. J. Biol. Chem. 271:11646-51
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 11646-11651
-
-
Laura, R.P.1
Dizhoor, A.M.2
Hurley, J.B.3
-
131
-
-
0033582173
-
Morphological, physiological, and biochemical changes in rhodopsin knockout mice
-
128. Lem J, Krasnoperova NV, Calvert PD, Kosaras B, Cameron DA, et al. 1999. Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc. Natl. Acad. Sci. USA 96:736-41
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 736-741
-
-
Lem, J.1
Krasnoperova, N.V.2
Calvert, P.D.3
Kosaras, B.4
Cameron, D.A.5
-
132
-
-
0002478362
-
Normal and activated ras oncogenes and their encoded products
-
129. Levinson AD. 1986. Normal and activated ras oncogenes and their encoded products. Trends Genet. 2:81-85
-
(1986)
Trends Genet.
, vol.2
, pp. 81-85
-
-
Levinson, A.D.1
-
133
-
-
0346210139
-
Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB
-
130. Levy G, Leci-Acobas F, Blanchard S, Gerber S, Larget-Piet D. 1997. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum. Mol. Genet. 6:111-16
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 111-116
-
-
Levy, G.1
Leci-Acobas, F.2
Blanchard, S.3
Gerber, S.4
Larget-Piet, D.5
-
135
-
-
0033071210
-
Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
-
132. Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, et al. 1999. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am. J. Hum. Genet. 64:422-34
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 422-434
-
-
Lewis, R.A.1
Shroyer, N.F.2
Singh, N.3
Allikmets, R.4
Hutchinson, A.5
-
136
-
-
0028947938
-
Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration
-
133. Li T, Franson WK, Gordon JW, Berson EL, Dryja TR. 1995. Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc. Natl. Acad. Sci. USA 92:3551-55
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 3551-3555
-
-
Li, T.1
Franson, W.K.2
Gordon, J.W.3
Berson, E.L.4
Dryja, T.R.5
-
137
-
-
0032578545
-
Effect of vitamin A supplementation on rhodopsin mutants threonine-17-methionine and proline-347-serine in transgenic mice and in cell cultures
-
134. Li T, Sandberg MA, Pawlyk BS, Rosner B, Hayes KC, et al. 1998. Effect of vitamin A supplementation on rhodopsin mutants threonine-17-methionine and proline-347-serine in transgenic mice and in cell cultures. Proc. Natl. Acad. Sci. USA 95:11933-38
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 11933-11938
-
-
Li, T.1
Sandberg, M.A.2
Pawlyk, B.S.3
Rosner, B.4
Hayes, K.C.5
-
138
-
-
0030475229
-
Transgenic mice carrying the dominant rhodopsin mutation P347S: Evidence for defective vectorial transport of rhodopsin to the outer segments
-
134a. Li T, Snyder WK, Olsson JE, Dryja TR. 1996. Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc. Natl. Acad. Sci. USA 93:14176-81
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 14176-14181
-
-
Li, T.1
Snyder, W.K.2
Olsson, J.E.3
Dryja, T.R.4
-
139
-
-
0033573979
-
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase
-
135. Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J. 1999. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc. Natl. Acad. Sci. USA 96:1315-20
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 1315-1320
-
-
Linari, M.1
Ueffing, M.2
Manson, F.3
Wright, A.4
Meitinger, T.5
Becker, J.6
-
140
-
-
0023023438
-
Effects of light and darkness on oxygen distribution and consumption in the cat retina
-
136. Linsenmeier RA. 1986. Effects of light and darkness on oxygen distribution and consumption in the cat retina. J. Gen. Physiol. 88:521-42
-
(1986)
J. Gen. Physiol.
, vol.88
, pp. 521-542
-
-
Linsenmeier, R.A.1
-
141
-
-
0029943263
-
Structure and function in rhodopsin: Correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa
-
137. Liu X, Garriga P, Khorana HG. 1996. Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 93:4554-59
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 4554-4559
-
-
Liu, X.1
Garriga, P.2
Khorana, H.G.3
-
142
-
-
0030811605
-
Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells
-
138. Liu X, Vansant G, Udovichenko IP, Wolfrum U, Williams IDS. 1997. Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells. Cell Motil. Cytoskel. 37:240-52
-
(1997)
Cell Motil. Cytoskel.
, vol.37
, pp. 240-252
-
-
Liu, X.1
Vansant, G.2
Udovichenko, I.P.3
Wolfrum, U.4
Williams, I.D.S.5
-
143
-
-
0032216552
-
Mutations in the myosin VIIAa gene cause a wide phenotypic spectrum, including atypical Usher syndrome
-
139. Liu X-Z, Hope C, Walsh J, Newton V, Ke XM, et al. 1998. Mutations in the myosin VIIAa gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am. J. Hum. Genet. 63:909-12
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 909-912
-
-
Liu, X.-Z.1
Hope, C.2
Walsh, J.3
Newton, V.4
Ke, X.M.5
-
144
-
-
0028223006
-
Linkage of photoreceptor degeneration by apoptosis with inherited defect in phototransduction
-
140. Lolley RN, Rong H, Craft CM. 1994. Linkage of photoreceptor degeneration by apoptosis with inherited defect in phototransduction. Invest. Ophthalmol. Vis. Sci. 35:358-62
-
(1994)
Invest. Ophthalmol. Vis. Sci.
, vol.35
, pp. 358-362
-
-
Lolley, R.N.1
Rong, H.2
Craft, C.M.3
-
145
-
-
0029073141
-
Cloning and expression of a second photoreceptor-specific membrane guanylate cyclase (RetGC), RetGC-2
-
141. Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, et al. 1995. Cloning and expression of a second photoreceptor-specific membrane guanylate cyclase (RetGC), RetGC-2. Proc. Natl. Acad. Sci. USA 92:5535-39
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 5535-5539
-
-
Lowe, D.G.1
Dizhoor, A.M.2
Liu, K.3
Gu, Q.4
Spencer, M.5
-
146
-
-
0027488507
-
Identification of novel rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: Implications for the structure and function of rhodopsin
-
142. Macke JR, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, et al. 1993. Identification of novel rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: implications for the structure and function of rhodopsin. Am. J. Hum. Genet. 53:80-89
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 80-89
-
-
Macke, J.R.1
Davenport, C.M.2
Jacobson, S.G.3
Hennessey, J.C.4
Gonzalez-Fernandez, F.5
-
147
-
-
0029816017
-
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
-
143. Mackey D, Oostra R-J, Rosenberg T, Nikoskelainen F, Bronte-Stewart J, et al. 1996. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am. J. Hum. Genet. 59:481-85
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 481-485
-
-
Mackey, D.1
Oostra, R.-J.2
Rosenberg, T.3
Nikoskelainen, F.4
Bronte-Stewart, J.5
-
148
-
-
0025837828
-
Laser photocoagulation for subfoveal neovascular lesions of age related macular degeneration: Results of a randomized clinical trial
-
144. Macular Photocoagulation Study Group. 1991. Laser photocoagulation for subfoveal neovascular lesions of age related macular degeneration: results of a randomized clinical trial. Arch. Ophthalmol. 109:1219-31
-
(1991)
Arch. Ophthalmol.
, vol.109
, pp. 1219-1231
-
-
-
149
-
-
0031252434
-
Mutations in RPE65 cause Leber's congenital amaurosis
-
145. Marlhens F, Bareil C, Griffoin J-M, Zrenner E, Amalric P, et al. 1997. Mutations in RPE65 cause Leber's congenital amaurosis. Nat. Genet. 17:139-41
-
(1997)
Nat. Genet.
, vol.17
, pp. 139-141
-
-
Marlhens, F.1
Bareil, C.2
Griffoin, J.-M.3
Zrenner, E.4
Amalric, P.5
-
151
-
-
0031709885
-
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
-
147. Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BH. 1998. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum. Mol. Genet. 7:1517-25
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1517-1525
-
-
Marquardt, A.1
Stohr, H.2
Passmore, L.A.3
Kramer, F.4
Rivera, A.5
Weber, B.H.6
-
152
-
-
0001771411
-
-
See Ref. 146
-
148. Marshall J, Hussain A, Starita C, Moore IDJ, Patmore AL. 1998. Aging and Bruch's membrane. See Ref. 146, pp. 669-92
-
(1998)
Aging and Bruch's Membrane
, pp. 669-692
-
-
Marshall, J.1
Hussain, A.2
Starita, C.3
Moore, I.D.J.4
Patmore, A.L.5
-
153
-
-
0031606609
-
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
-
149. Martinez-Mir A, Paloma E, Allikmets R, Ayoso C, del Rio T, et al. 1998. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat. Genet. 18:11-12
-
(1998)
Nat. Genet.
, vol.18
, pp. 11-12
-
-
Martinez-Mir, A.1
Paloma, E.2
Allikmets, R.3
Ayoso, C.4
Del Rio, T.5
-
154
-
-
0027300627
-
Editorial: Supplemental vitamin A retards loss of ERG amplitude in retintis pigmentosa
-
150. Massof RW, Finkelstein D. 1993. Editorial: supplemental vitamin A retards loss of ERG amplitude in retintis pigmentosa. Arch. Ophthalmol. 111:751-54
-
(1993)
Arch. Ophthalmol.
, vol.111
, pp. 751-754
-
-
Massof, R.W.1
Finkelstein, D.2
-
155
-
-
0033237315
-
The 2588G to C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
-
151. Maugeri A, van Driel MA, van de Pol IDJR, Klevering BJ, van Haren FJJ, et al. 1999. The 2588G to C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am. J. Hum. Genet. 64: 1024-35
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1024-1035
-
-
Maugeri, A.1
Van Driel, M.A.2
Van De Pol, I.D.J.R.3
Klevering, B.J.4
Van Haren, F.J.J.5
-
156
-
-
84984763750
-
Mutations in the gene encoding cellular retinaldehyde-binding protein in autosomal recesssive retinitis pigmentosa
-
152. Maw MA, Kennedy BA, Knight A, Bridges R, Roth KE, et al. 1997. Mutations in the gene encoding cellular retinaldehyde-binding protein in autosomal recesssive retinitis pigmentosa. Nat. Genet. 17:198-200
-
(1997)
Nat. Genet.
, vol.17
, pp. 198-200
-
-
Maw, M.A.1
Kennedy, B.A.2
Knight, A.3
Bridges, R.4
Roth, K.E.5
-
158
-
-
0027177717
-
Nonsense mutations and diminished mRNA levels
-
154. McIntosh I, Hamosh A, Dietz HC. 1993. Nonsense mutations and diminished mRNA levels. Nat. Genet. 4:219
-
(1993)
Nat. Genet.
, vol.4
, pp. 219
-
-
McIntosh, I.1
Hamosh, A.2
Dietz, H.C.3
-
159
-
-
0028939390
-
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
-
155. McLaughlin ME, Ehrhart TL, Berson EL, Dryja TR. 1995. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92:3249-53
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 3249-3253
-
-
McLaughlin, M.E.1
Ehrhart, T.L.2
Berson, E.L.3
Dryja, T.R.4
-
160
-
-
0027270053
-
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
-
156. McLaughlin ME, Sandberg MA, Berson EL, DryjaTR. 1993. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat. Genet. 4:130-34
-
(1993)
Nat. Genet.
, vol.4
, pp. 130-134
-
-
McLaughlin, M.E.1
Sandberg, M.A.2
Berson, E.L.3
-
161
-
-
0024745724
-
Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3
-
157. McWilliam P, Farrar GJ, Kenna P, Bradley DG, Humphries MM, et al. 1989. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 5:619-22
-
(1989)
Genomics
, vol.5
, pp. 619-622
-
-
McWilliam, P.1
Farrar, G.J.2
Kenna, P.3
Bradley, D.G.4
Humphries, M.M.5
-
162
-
-
0026935145
-
Norrie disease is caused by mutations in an extracellular protein resembling the C-terminal globular domain of mucins
-
158. Meindl A, Berger W, Meitinger T, Van de Pol D, Achatz H, et al. 1992. Norrie disease is caused by mutations in an extracellular protein resembling the C-terminal globular domain of mucins. Nat. Genet. 2:139-43
-
(1992)
Nat. Genet.
, vol.2
, pp. 139-143
-
-
Meindl, A.1
Berger, W.2
Meitinger, T.3
Van De Pol, D.4
Achatz, H.5
-
163
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
159. Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, et al. 1996. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat. Genet. 13:35-42
-
(1996)
Nat. Genet.
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
Manson, F.4
Ciccodicola, A.5
-
164
-
-
0027377708
-
Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure
-
160. Meitinger T, Meindl A, Bork P, Rost B, Sander C, et al. 1993. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat. Genet. 5:376-80
-
(1993)
Nat. Genet.
, vol.5
, pp. 376-380
-
-
Meitinger, T.1
Meindl, A.2
Bork, P.3
Rost, B.4
Sander, C.5
-
166
-
-
0032052472
-
Histopathology of the human retina in retinitis pigmentosa
-
162. Milam AH, Li ZY, Fariss RN. 1998. Histopathology of the human retina in retinitis pigmentosa. Prog. Retinal Eye Res. 17:175-205
-
(1998)
Prog. Retinal Eye Res.
, vol.17
, pp. 175-205
-
-
Milam, A.H.1
Li, Z.Y.2
Fariss, R.N.3
-
167
-
-
0027273840
-
Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa: Mutations on the cytoplasmic surface affect transducin activation
-
163. Min KC, Zvyaga TA, Cypess AM, Sakmar TP. 1993. Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa: mutations on the cytoplasmic surface affect transducin activation. J. Biol. Chem. 268: 9400-4
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 9400-9404
-
-
Min, K.C.1
Zvyaga, T.A.2
Cypess, A.M.3
Sakmar, T.P.4
-
168
-
-
0023616983
-
Characteristic ERG flicker anomaly in incomplete congenital stationary night blindness
-
164. Miyake Y, Horiuchu M, Ota I, Shiroyama N. 1987. Characteristic ERG flicker anomaly in incomplete congenital stationary night blindness. Invest. Ophthalmol. Vis. Sci. 28:1816-23
-
(1987)
Invest. Ophthalmol. Vis. Sci.
, vol.28
, pp. 1816-1823
-
-
Miyake, Y.1
Horiuchu, M.2
Ota, I.3
Shiroyama, N.4
-
169
-
-
0022528965
-
Congenital stationary night blindness with negative electroretinogram
-
165. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T. 1986. Congenital stationary night blindness with negative electroretinogram. Arch. Ophthalmol. 104:1013-20
-
(1986)
Arch. Ophthalmol.
, vol.104
, pp. 1013-1020
-
-
Miyake, Y.1
Yagasaki, K.2
Horiguchi, M.3
Kawase, Y.4
Kanda, T.5
-
170
-
-
0032421235
-
Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases
-
166. Molday RS. 1998. Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. Invest. Ophthalmol. Vis. Sci. 39:2493-513
-
(1998)
Invest. Ophthalmol. Vis. Sci.
, vol.39
, pp. 2493-2513
-
-
Molday, R.S.1
-
171
-
-
0023064180
-
Peripherin: A rim-specific membrane protein of rod outer segment disks
-
167. Molday RS, Hicks D, Molday LL. 1987. Peripherin: a rim-specific membrane protein of rod outer segment disks. Invest. Ophthalmol. Vis. Sci. 28:50-61
-
(1987)
Invest. Ophthalmol. Vis. Sci.
, vol.28
, pp. 50-61
-
-
Molday, R.S.1
Hicks, D.2
Molday, L.L.3
-
172
-
-
0033066801
-
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde binding protein in a form of retinitis punctata albescens
-
168. Morimura H, Berson EL, Dryja TP. 1999. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde binding protein in a form of retinitis punctata albescens. Invest. Ophthalmol. Vis. Sci. 40:1000-4
-
(1999)
Invest. Ophthalmol. Vis. Sci.
, vol.40
, pp. 1000-1004
-
-
Morimura, H.1
Berson, E.L.2
Dryja, T.P.3
-
173
-
-
0032539851
-
Mutations in the RPE65 gene in patients with autosomal retinitis pigmentosa or Leber congenital amaurosis
-
169. Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. 1998. Mutations in the RPE65 gene in patients with autosomal retinitis pigmentosa or Leber congenital amaurosis. Proc. Natl. Acad. Sci. USA 95:3088-93
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 3088-3093
-
-
Morimura, H.1
Fishman, G.A.2
Grover, S.A.3
Fulton, A.B.4
Berson, E.L.5
Dryja, T.P.6
-
174
-
-
0027383944
-
Tissue inhibitor of metalloproteinases-2 inhibits bFGF-induced human microvascular endothelial cell proliferation
-
170. Murphy AN, Unsworth EJ, Stetler-Stevenson WG. 1993. Tissue inhibitor of metalloproteinases-2 inhibits bFGF-induced human microvascular endothelial cell proliferation. J. Cell Physiol. 157: 351-58
-
(1993)
J. Cell Physiol.
, vol.157
, pp. 351-358
-
-
Murphy, A.N.1
Unsworth, E.J.2
Stetler-Stevenson, W.G.3
-
175
-
-
0031894886
-
Arrestin gene mutations in autosomal recessive retinitis pigmentosa
-
171. Nakazawa M, Wada Y, Tamai M. 1998. Arrestin gene mutations in autosomal recessive retinitis pigmentosa. Arch. Ophthalmol 116:498-501
-
(1998)
Arch. Ophthalmol.
, vol.116
, pp. 498-501
-
-
Nakazawa, M.1
Wada, Y.2
Tamai, M.3
-
176
-
-
0031922842
-
Mapping of the rod photoreceptor ABC transporter ABCR to 1 p21-p22.1 and identification of novel mutations in Stargardt's disease
-
172. Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BHF. 1998. Mapping of the rod photoreceptor ABC transporter ABCR to 1 p21-p22.1 and identification of novel mutations in Stargardt's disease. Hum. Genet. 102:21-26
-
(1998)
Hum. Genet.
, vol.102
, pp. 21-26
-
-
Nasonkin, I.1
Illing, M.2
Koehler, M.R.3
Schmid, M.4
Molday, R.S.5
Weber, B.H.F.6
-
177
-
-
0024449541
-
Molecular genetics of human blue cone monochromacy
-
173. Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, et al. 1989. Molecular genetics of human blue cone monochromacy. Science 245:831-38
-
(1989)
Science
, vol.245
, pp. 831-838
-
-
Nathans, J.1
Davenport, C.M.2
Maumenee, I.H.3
Lewis, R.A.4
Hejtmancik, J.F.5
-
178
-
-
0027436009
-
Genetic heterogeneity among blue cone monochromats
-
174. Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, et al. 1993. Genetic heterogeneity among blue cone monochromats. Am. J. Hum. Genet. 53: 987-1000
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 987-1000
-
-
Nathans, J.1
Maumenee, I.H.2
Zrenner, E.3
Sadowski, B.4
Sharpe, L.T.5
-
179
-
-
0022696951
-
Molecular genetics of inherited variation in human color vision
-
175. Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS. 1986. Molecular genetics of inherited variation in human color vision. Science 232:203-10
-
(1986)
Science
, vol.232
, pp. 203-210
-
-
Nathans, J.1
Piantanida, T.P.2
Eddy, R.L.3
Shows, T.B.4
Hogness, D.S.5
-
183
-
-
0031004576
-
Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular disease
-
179. North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM. 1997. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular disease. Proc. Natl. Acad. Sci. USA 94:3128-33
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 3128-3133
-
-
North, M.A.1
Naggert, J.K.2
Yan, Y.3
Noben-Trauth, K.4
Nishina, P.M.5
-
184
-
-
0026463972
-
Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of retinitis pigmentosa
-
180. Olsson JE, Gordon JW, Pawlyk BS, Roof D, Hayes A, et al. 1992. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of retinitis pigmentosa. Neuron 9:815-30
-
(1992)
Neuron
, vol.9
, pp. 815-830
-
-
Olsson, J.E.1
Gordon, J.W.2
Pawlyk, B.S.3
Roof, D.4
Hayes, A.5
-
185
-
-
0018187914
-
Immunocytochemical localization of a large intrinsic membrane protein to the incisure and margins of frog rod outer segment disks
-
181. Papermaster DS, Schneider BG, Zorn MA, Kraehenbuhl JR. 1978. Immunocytochemical localization of a large intrinsic membrane protein to the incisure and margins of frog rod outer segment disks. J. Cell Biol. 78:415-25
-
(1978)
J. Cell Biol.
, vol.78
, pp. 415-425
-
-
Papermaster, D.S.1
Schneider, B.G.2
Zorn, M.A.3
Kraehenbuhl, J.R.4
-
186
-
-
0031974462
-
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
-
182. Payne AM, Downes SM, Bessant DAR, Taylor R, Holder GE, et al. 1998. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum. Mol. Genet. 7:273-77
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 273-277
-
-
Payne, A.M.1
Downes, S.M.2
Bessant, D.A.R.3
Taylor, R.4
Holder, G.E.5
-
187
-
-
0025274526
-
Variable expressivity in X-linked congenital stationary night blindness
-
183. Pearce WG, Reedyk M, Coupland SG. 1990. Variable expressivity in X-linked congenital stationary night blindness. Can. J. Ophthalmol. 25:3-10
-
(1990)
Can. J. Ophthalmol.
, vol.25
, pp. 3-10
-
-
Pearce, W.G.1
Reedyk, M.2
Coupland, S.G.3
-
188
-
-
16144363583
-
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
-
184. Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, et al. 1996. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat. Genet. 14:461-64
-
(1996)
Nat. Genet.
, vol.14
, pp. 461-464
-
-
Perrault, I.1
Rozet, J.M.2
Calvas, P.3
Gerber, S.4
Camuzat, A.5
-
189
-
-
17344364275
-
Identification of the gene responsible for Best macular dystrophy
-
185. Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, et al. 1998. Identification of the gene responsible for Best macular dystrophy. Nat. Genet. 19:241-47
-
(1998)
Nat. Genet.
, vol.19
, pp. 241-247
-
-
Petrukhin, K.1
Koisti, M.J.2
Bakall, B.3
Li, W.4
Xie, G.5
-
190
-
-
0030299881
-
Turned on by calcium: The physiology and pathology of calcium-binding proteins in the retina
-
186. Polans A, Baehr W, Palczewski K. 1996. Turned on by calcium: the physiology and pathology of calcium-binding proteins in the retina. Trends Neurosci. 19: 547-54
-
(1996)
Trends Neurosci.
, vol.19
, pp. 547-554
-
-
Polans, A.1
Baehr, W.2
Palczewski, K.3
-
192
-
-
0025572721
-
Cyclic GMP and calcium: The internal messengers of excitation and adaptation in vertebrate photoreceptors
-
188. Pugh EN, Lamb TD. 1990. Cyclic GMP and calcium: the internal messengers of excitation and adaptation in vertebrate photoreceptors. Vis. Res. 30:1923-48
-
(1990)
Vis. Res.
, vol.30
, pp. 1923-1948
-
-
Pugh, E.N.1
Lamb, T.D.2
-
193
-
-
0028125886
-
Rhodopsin mutation G90D and a molecular mechanism for congenital stationary night blindness
-
189. Rao VR, Cohen GB, Oprian DD. 1994. Rhodopsin mutation G90D and a molecular mechanism for congenital stationary night blindness. Nature 367:639-42
-
(1994)
Nature
, vol.367
, pp. 639-642
-
-
Rao, V.R.1
Cohen, G.B.2
Oprian, D.D.3
-
194
-
-
0029993990
-
Activating mutations of rhodopsin and other G protein-coupled receptors
-
190. Rao VR, Oprian DD. 1996. Activating mutations of rhodopsin and other G protein-coupled receptors. Annu. Rev. Biophys. Biomol. Struct. 25:287-314
-
(1996)
Annu. Rev. Biophys. Biomol. Struct.
, vol.25
, pp. 287-314
-
-
Rao, V.R.1
Oprian, D.D.2
-
195
-
-
0025298101
-
The chemistry of vitamin A and vision
-
191. Rando RR. 1990. The chemistry of vitamin A and vision. Angew. Chem. Int. Ed. Engl. 29:461-80
-
(1990)
Angew. Chem. Int. Ed. Engl.
, vol.29
, pp. 461-480
-
-
Rando, R.R.1
-
196
-
-
0030064117
-
The basic motif leucine zipper transcription factor Nr1 can positively regulate rhodopsin gene expression
-
192. Rehemtulla A, Warwar R, Kumar R, Ji X, Zack DJ, Swaroop A. 1996. The basic motif leucine zipper transcription factor Nr1 can positively regulate rhodopsin gene expression. Proc. Natl. Acad. Sci. USA 93:191-95
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 191-195
-
-
Rehemtulla, A.1
Warwar, R.2
Kumar, R.3
Ji, X.4
Zack, D.J.5
Swaroop, A.6
-
197
-
-
0024454013
-
An electroretinographic and molecular genetic study of X-linked cone degeneration
-
193. Reichel E, Bruce AM, Sandberg MA, Berson EL. 1989. An electroretinographic and molecular genetic study of X-linked cone degeneration. Am. J. Ophthalmol. 108:540-47
-
(1989)
Am. J. Ophthalmol.
, vol.108
, pp. 540-547
-
-
Reichel, E.1
Bruce, A.M.2
Sandberg, M.A.3
Berson, E.L.4
-
198
-
-
0033580310
-
The mouse X-linked juvenile retinoschisis cDNA: Expression in photoreceptors
-
194. Reid SNM, Akhmedov NB, Piriev NI, Kozak CA, Danciger M, Farber DB. 1999. The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Gene 227:257-66
-
(1999)
Gene
, vol.227
, pp. 257-266
-
-
Reid, S.N.M.1
Akhmedov, N.B.2
Piriev, N.I.3
Kozak, C.A.4
Danciger, M.5
Farber, D.B.6
-
199
-
-
0029741063
-
The future of genetic studies of complex human disorders
-
195. Risch N, Merikangas K. 1996. The future of genetic studies of complex human disorders. Science 273:1516-17
-
(1996)
Science
, vol.273
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
200
-
-
0029117895
-
Constitutive activation of opsin: Interaction of mutants with rhodopsin kinase and arrestin
-
196. Rim J, Oprian DD. 1995. Constitutive activation of opsin: interaction of mutants with rhodopsin kinase and arrestin. Biochemistry 34:11938-45
-
(1995)
Biochemistry
, vol.34
, pp. 11938-11945
-
-
Rim, J.1
Oprian, D.D.2
-
202
-
-
0020284922
-
The role of vitamin E and unsaturated fatty acids in the visual process
-
198. Robinson WG, Kuwabara T, Bier JG. 1982. The role of vitamin E and unsaturated fatty acids in the visual process. Retina 4:263-81
-
(1982)
Retina
, vol.4
, pp. 263-281
-
-
Robinson, W.G.1
Kuwabara, T.2
Bier, J.G.3
-
204
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
-
200. Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJLG, Bleeker-Wagemakers LM, et al. 1996. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum. Mol. Genet. 5:1035-41
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
Van Duijnhoven, G.2
Rosenberg, T.3
Pinckers, A.J.L.G.4
Bleeker-Wagemakers, L.M.5
-
205
-
-
0033545288
-
The arrangement of the three classes of cones in the living human eye
-
201. Roorda A, Williams DR. 1999. The arrangement of the three classes of cones in the living human eye. Nature 397:520-22
-
(1999)
Nature
, vol.397
, pp. 520-522
-
-
Roorda, A.1
Williams, D.R.2
-
206
-
-
0026878962
-
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
-
202. Rosenfeld PJ, Cowley GS, McGee TIL, Sandberg MA, Berson EL, Dryja TP. 1992. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat. Genet. 1:209-13
-
(1992)
Nat. Genet.
, vol.1
, pp. 209-213
-
-
Rosenfeld, P.J.1
Cowley, G.S.2
McGee, T.I.L.3
Sandberg, M.A.4
Berson, E.L.5
Dryja, T.P.6
-
207
-
-
13144294983
-
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
-
203. Rozet JM, Gerber S, Souied E, Perrault I, Chatelin S, et al. 1998. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur. J. Hum. Genet. 6:291-95
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 291-295
-
-
Rozet, J.M.1
Gerber, S.2
Souied, E.3
Perrault, I.4
Chatelin, S.5
-
208
-
-
0027687409
-
Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type
-
204. Ruether K, Apfelstedt-Sylla E, Zrenner E. 1993. Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type. Ger. J. Ophthalmol. 2:429-35
-
(1993)
Ger. J. Ophthalmol.
, vol.2
, pp. 429-435
-
-
Ruether, K.1
Apfelstedt-Sylla, E.2
Zrenner, E.3
-
209
-
-
0028211275
-
Control of substrate flow at a branch in the visual cycle
-
205. Saari JC, Bredberg DL, Noy N. 1994. Control of substrate flow at a branch in the visual cycle. Biochemistry 33:3106-12
-
(1994)
Biochemistry
, vol.33
, pp. 3106-3112
-
-
Saari, J.C.1
Bredberg, D.L.2
Noy, N.3
-
210
-
-
0019364889
-
Absence of receptor outer segments in the retina of rds mutant mice
-
206. Sanyal S, Jansen HG. 1981. Absence of receptor outer segments in the retina of rds mutant mice. Neurosci. Lett. 21:23-26
-
(1981)
Neurosci. Lett.
, vol.21
, pp. 23-26
-
-
Sanyal, S.1
Jansen, H.G.2
-
211
-
-
0030771360
-
Positional cloning of the gene associated with X-linked juvenile retinoschisis
-
207. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, et al. 1997. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat. Genet. 17:164-70
-
(1997)
Nat. Genet.
, vol.17
, pp. 164-170
-
-
Sauer, C.G.1
Gehrig, A.2
Warneke-Wittstock, R.3
Marquardt, A.4
Ewing, C.C.5
-
212
-
-
0032231664
-
Statistical Genetics '98: Transmission disequilibrium, family controls, and great expectations
-
208. Schaid DJ. 1998. Statistical Genetics '98: transmission disequilibrium, family controls, and great expectations. Am. J. Hum. Genet. 63:935-41
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 935-941
-
-
Schaid, D.J.1
-
213
-
-
0030956093
-
Dependence of photoreceptor glutamate release on a dihydropyridine-sensitive calcium channel
-
209. Schmitz Y, Witkovsky P. 1997. Dependence of photoreceptor glutamate release on a dihydropyridine-sensitive calcium channel. Neuroscience 78:1209-16
-
(1997)
Neuroscience
, vol.78
, pp. 1209-1216
-
-
Schmitz, Y.1
Witkovsky, P.2
-
215
-
-
17344363489
-
Positional cloning of the gene for X-linked retinitis pigmentosa 2
-
211. Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, et al. 1998. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat. Genet. 19:327-32
-
(1998)
Nat. Genet.
, vol.19
, pp. 327-332
-
-
Schwahn, U.1
Lenzner, S.2
Dong, J.3
Feil, S.4
Hinzmann, B.5
-
217
-
-
0027339162
-
Retinal degeneration in choroideremia: Deficiency of rab geranylgeranyl transferase
-
212. Seabra MC, Brown MS, Goldstein JL. 1993. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science 259:377-81
-
(1993)
Science
, vol.259
, pp. 377-381
-
-
Seabra, M.C.1
Brown, M.S.2
Goldstein, J.L.3
-
218
-
-
0026800719
-
Purification of component A of Rab geranylgeranyl transferase: Possible identity with the choroideremia gene product
-
213. Seabra MC, Brown MS, Slaughter CA, Sudhof TC, Goldstein JL. 1992. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell 70:1049-57
-
(1992)
Cell
, vol.70
, pp. 1049-1057
-
-
Seabra, M.C.1
Brown, M.S.2
Slaughter, C.A.3
Sudhof, T.C.4
Goldstein, J.L.5
-
219
-
-
0026629308
-
Rab geranylgeranyl transferase: A multisubunit enzyme that prenylates GTP-binding proteins terminating in cys-X-cys or cys-cys
-
214. Seabra MC, Goldstein JL, Sudhof TC, Brown MS. 1992. Rab geranylgeranyl transferase: a multisubunit enzyme that prenylates GTP-binding proteins terminating in cys-X-cys or cys-cys. J. Biol. Chem. 267:14497-503
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 14497-14503
-
-
Seabra, M.C.1
Goldstein, J.L.2
Sudhof, T.C.3
Brown, M.S.4
-
220
-
-
0028822704
-
Deficient geranylgeranylation of Ram/Rab27 in chroideremia
-
215. Seabra MC, Ho YK, Anant JS. 1995. Deficient geranylgeranylation of Ram/Rab27 in chroideremia. J. Biol. Chem. 270:24420-27
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 24420-24427
-
-
Seabra, M.C.1
Ho, Y.K.2
Anant, J.S.3
-
222
-
-
0032477872
-
A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
-
217. Semple-Rowland SL, Lee NR, Van Hooser JP, Palczewski K, Baehr W. 1998. A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc. Natl. Acad. Sci. USA 95:1271-76
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 1271-1276
-
-
Semple-Rowland, S.L.1
Lee, N.R.2
Van Hooser, J.P.3
Palczewski, K.4
Baehr, W.5
-
223
-
-
0030902358
-
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy
-
218. Shastry BS, Hejtmancik JF, Trese MT. 1997. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum. Mutat. 9:396-401
-
(1997)
Hum. Mutat.
, vol.9
, pp. 396-401
-
-
Shastry, B.S.1
Hejtmancik, J.F.2
Trese, M.T.3
-
224
-
-
0030919857
-
Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity
-
219. Shastry BS, Pendergast SD, Hartzer MK, Liu X, Trese MT. 1997. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch. Ophthalmol. 115:651-55
-
(1997)
Arch. Ophthalmol.
, vol.115
, pp. 651-655
-
-
Shastry, B.S.1
Pendergast, S.D.2
Hartzer, M.K.3
Liu, X.4
Trese, M.T.5
-
225
-
-
0000088053
-
Visual system dysfunction in Leber's hereditary optic neuropathy
-
220. Sherman J, Kleiner L. 1994. Visual system dysfunction in Leber's hereditary optic neuropathy. Clin. Neurosci. 2:121-29
-
(1994)
Clin. Neurosci.
, vol.2
, pp. 121-129
-
-
Sherman, J.1
Kleiner, L.2
-
226
-
-
0000625860
-
Retinal metabolism in dark and light
-
ed. MGF Fuortes Berlin: Springer-Verlag
-
221. Sickel W. 1972. Retinal metabolism in dark and light. In Physiology of Photoreceptor Organs, ed. MGF Fuortes, pp. 667-727. Berlin: Springer-Verlag
-
(1972)
Physiology of Photoreceptor Organs
, pp. 667-727
-
-
Sickel, W.1
-
227
-
-
0028798659
-
Dark-light: Model for night blindness from the human rhodopsin gly-90-asp mutation
-
222. Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. 1995. Dark-light: model for night blindness from the human rhodopsin gly-90-asp mutation. Proc. Natl. Acad. Sci. USA 92:880-84
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 880-884
-
-
Sieving, P.A.1
Richards, J.E.2
Naarendorp, F.3
Bingham, E.L.4
Scott, K.5
Alpern, M.6
-
228
-
-
0028033697
-
Is genetic predisposition an important risk factor in age-related macular degeneration?
-
223. Silvestri G, Johnson PB, Hughes AE. 1994. Is genetic predisposition an important risk factor in age-related macular degeneration? Eye 8:564-68
-
(1994)
Eye
, vol.8
, pp. 564-568
-
-
Silvestri, G.1
Johnson, P.B.2
Hughes, A.E.3
-
229
-
-
0028816843
-
The retinal-pigment epithelial-specific 11 -cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases
-
223a. Simon A, Hellma U, Wernstedt C, Eriksson U. 1995. The retinal-pigment epithelial-specific 11 -cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases. J. Biol. Chem. 270:1107-12
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 1107-1112
-
-
Simon, A.1
Hellma, U.2
Wernstedt, C.3
Eriksson, U.4
-
230
-
-
0032231603
-
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription factor gene
-
224. Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, et al. 1998. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription factor gene. Am. J. Hum. Genet. 63:1307-15
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1307-1315
-
-
Sohocki, M.M.1
Sullivan, L.S.2
Mintz-Hittner, H.A.3
Birch, D.4
Heckenlively, J.R.5
-
231
-
-
0032112324
-
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy
-
225. Sokal I, Li N, Surgucheva I, Warren MJ, Payne AM, Bhattacharya SS, et al. 1998. GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Mol. Cell 2:129-33
-
(1998)
Mol. Cell
, vol.2
, pp. 129-133
-
-
Sokal, I.1
Li, N.2
Surgucheva, I.3
Warren, M.J.4
Payne, A.M.5
Bhattacharya, S.S.6
-
232
-
-
0000689386
-
-
See Ref. 211a
-
226. Steiner DF, Tager HS, Nanjo K, Chan SJ, Rubenstein AH. 1995. Familial syndromes of hyperproinsulinemia and hyperinsulinemia with mild diabetes. See Ref. 211a, pp. 897-904
-
(1995)
Familial Syndromes of Hyperproinsulinemia and Hyperinsulinemia with Mild Diabetes
, pp. 897-904
-
-
Steiner, D.F.1
Tager, H.S.2
Nanjo, K.3
Chan, S.J.4
Rubenstein, A.H.5
-
233
-
-
0024323956
-
Addition of the chromophore to rat rhodopsin is an early post-translational step
-
227. St. Jules RS, Wallingford JC, Smith SB, O'Brien PJ. 1989. Addition of the chromophore to rat rhodopsin is an early post-translational step. Exp. Eye Res. 48:653-65
-
(1989)
Exp. Eye Res.
, vol.48
, pp. 653-665
-
-
St. Jules, R.S.1
Wallingford, J.C.2
Smith, S.B.3
O'Brien, P.J.4
-
234
-
-
0031795853
-
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
-
228. Stone EM, Webster AR, Vandenburgh K, Streb LM, Hockey RR, et al. 1998. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat. Genet. 20:328-29
-
(1998)
Nat. Genet.
, vol.20
, pp. 328-329
-
-
Stone, E.M.1
Webster, A.R.2
Vandenburgh, K.3
Streb, L.M.4
Hockey, R.R.5
-
235
-
-
0033027071
-
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
-
228a. Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, et al. 1999. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat. Genet. 22:199-202
-
(1999)
Nat. Genet.
, vol.22
, pp. 199-202
-
-
Stone, E.M.1
Lotery, A.J.2
Munier, F.L.3
Heon, E.4
Piguet, B.5
-
236
-
-
17344366487
-
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
-
229. Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, et al. 1997. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat. Genet. 19:260-63
-
(1997)
Nat. Genet.
, vol.19
, pp. 260-263
-
-
Strom, T.M.1
Nyakatura, G.2
Apfelstedt-Sylla, E.3
Hellebrand, H.4
Lorenz, B.5
-
237
-
-
0000761427
-
Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ABC transporter responsible for Stargardt disease
-
230. Sun H, Molday RS, Nathans J. 1999. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ABC transporter responsible for Stargardt disease. J. Biol. Chem. 274:8269-81
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 8269-8281
-
-
Sun, H.1
Molday, R.S.2
Nathans, J.3
-
238
-
-
0031230154
-
Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
-
231. Sun H, Nathans J. 1997. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat. Genet. 17:15-16
-
(1997)
Nat. Genet.
, vol.17
, pp. 15-16
-
-
Sun, H.1
Nathans, J.2
-
239
-
-
0026209385
-
Rhodopsin mutations in autosomal dominant retinitis pigmentosa
-
232. Sung C-H, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, et al. 1991. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88:6481-85
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 6481-6485
-
-
Sung, C.-H.1
Davenport, C.M.2
Hennessey, J.C.3
Maumenee, I.H.4
Jacobson, S.G.5
-
240
-
-
0027452148
-
Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: Clustering of functional classes along the polypeptide chain
-
233. Sung C-H, Davenport C, Nathans J. 1993. Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: clustering of functional classes along the polypeptide chain. J. Biol. Chem. 268: 26645-49
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 26645-26649
-
-
Sung, C.-H.1
Davenport, C.2
Nathans, J.3
-
241
-
-
0027935666
-
A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment
-
234. Sung C-H, Makino C, Baylor D, Nathans J. 1994. A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J. Neurosci. 14: 5818-33
-
(1994)
J. Neurosci.
, vol.14
, pp. 5818-5833
-
-
Sung, C.-H.1
Makino, C.2
Baylor, D.3
Nathans, J.4
-
242
-
-
0026058548
-
Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
-
235. Sung C-H, Schneider BG, Agarwal N, Papermaster D, Nathans J. 1991. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88:8840-44
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 8840-8844
-
-
Sung, C.-H.1
Schneider, B.G.2
Agarwal, N.3
Papermaster, D.4
Nathans, J.5
-
243
-
-
0031447030
-
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
-
236. Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, et al. 1998. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19:1329-36
-
(1998)
Neuron
, vol.19
, pp. 1329-1336
-
-
Swain, P.K.1
Chen, S.2
Wang, Q.L.3
Affatigato, L.M.4
Coats, C.L.5
-
244
-
-
0026543201
-
A conserved retina-specific gene encodes a basic motif-leucine zipper domain
-
237. Swaroop A, Xu J, Pawar H, Jackson A, Skolnick C, Agarwal N. 1992. A conserved retina-specific gene encodes a basic motif-leucine zipper domain. Proc. Natl. Acad. Sci. USA 89:266-270
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 266-270
-
-
Swaroop, A.1
Xu, J.2
Pawar, H.3
Jackson, A.4
Skolnick, C.5
Agarwal, N.6
-
245
-
-
0033603239
-
Rhodopsin's carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding to the dynein light chain Tctex-1
-
237a. Tai AW, Chuang J-Z, Bode C, Wolfram U, Sung C-H. 1999. Rhodopsin's carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding to the dynein light chain Tctex-1. Cell 97:877-87
-
(1999)
Cell
, vol.97
, pp. 877-887
-
-
Tai, A.W.1
Chuang, J.-Z.2
Bode, C.3
Wolfram, U.4
Sung, C.-H.5
-
246
-
-
7144253129
-
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
-
238. The Retinoschisis Consortium. 1998. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum. Mol. Genet. 7:1185-92
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1185-1192
-
-
-
247
-
-
0030861514
-
Photoreceptor rim protein: Partial sequences of cDNA show a high degree of similarity to ABC transporters
-
239. Thomson JL, Brzeski H, Dunbar B, Forrester JV, Fothergill JE, Converse CA. 1997. Photoreceptor rim protein: partial sequences of cDNA show a high degree of similarity to ABC transporters. Curr. Eye Res. 16:741-45
-
(1997)
Curr. Eye Res.
, vol.16
, pp. 741-745
-
-
Thomson, J.L.1
Brzeski, H.2
Dunbar, B.3
Forrester, J.V.4
Fothergill, J.E.5
Converse, C.A.6
-
248
-
-
0024571803
-
Identification of a photoreceptor specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)
-
240. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. 1989. Identification of a photoreceptor specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338:70-73
-
(1989)
Nature
, vol.338
, pp. 70-73
-
-
Travis, G.H.1
Brennan, M.B.2
Danielson, P.E.3
Kozak, C.A.4
Sutcliffe, J.G.5
-
250
-
-
0029657975
-
Identification of a novel R5520 mutation in exon 13 of the beta subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa
-
242. Valverde D, Baiget M, Seminago R, del Rio E, Garcia-Sandoval B, et al. 1996. Identification of a novel R5520 mutation in exon 13 of the beta subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Hum. Mutat. 8:393-94
-
(1996)
Hum. Mutat.
, vol.8
, pp. 393-394
-
-
Valverde, D.1
Baiget, M.2
Seminago, R.3
Del Rio, E.4
Garcia-Sandoval, B.5
-
251
-
-
16944364182
-
Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene
-
243. van den Hurk JAJM, Schwartz M, van Bokhoven H, van de Pol TJR, Bogerd L, et al. 1997. Molecular basis of choroideremia (CHM): mutations involving the rab escort protein-1 (REP-1) gene. Hum. Mutat. 9:110-17
-
(1997)
Hum. Mutat.
, vol.9
, pp. 110-117
-
-
Van Den Hurk, J.A.J.M.1
Schwartz, M.2
Van Bokhoven, H.3
Van De Pol, T.J.R.4
Bogerd, L.5
-
252
-
-
0029118005
-
MtDNA mutations associated with Leber's herditary optic neuropathy: Studies on cytoplasmic hybrid (cybrid) cells
-
244. Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, et al. 1995. MtDNA mutations associated with Leber's herditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem. Biophys. Res. Commun. 210:880-88
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.210
, pp. 880-888
-
-
Vergani, L.1
Martinuzzi, A.2
Carelli, V.3
Cortelli, P.4
Montagna, P.5
-
254
-
-
0029045299
-
Mitochondrial DNA variation in human evolution, degenerative disease, and aging
-
246. Wallace DC. 1995. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am. J. Hum. Genet. 57:201-23
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 201-223
-
-
Wallace, D.C.1
-
255
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
247. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, et al. 1988. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-30
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
-
256
-
-
0029970085
-
A mouse model of gyrate atrophy of the choroid and retina: Early pigment epithelium damage and progressive retinal degeneration
-
248. Wang T, Milam AH, Steel G, Valle D. 1996. A mouse model of gyrate atrophy of the choroid and retina: early pigment epithelium damage and progressive retinal degeneration. J. Clin. Invest. 97:2753-62
-
(1996)
J. Clin. Invest.
, vol.97
, pp. 2753-2762
-
-
Wang, T.1
Milam, A.H.2
Steel, G.3
Valle, D.4
-
257
-
-
0024425212
-
Molecular defects in Drosophila rhodopsin mutants
-
249. Washburn T, O'Tousa JE. 1989. Molecular defects in Drosophila rhodopsin mutants. J. Biol. Chem. 264:15464-66
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 15464-15466
-
-
Washburn, T.1
O'Tousa, J.E.2
-
258
-
-
0028097367
-
Mutations in the tissue inhibitor of metalloproteinase-3 (TIMP3) in patients with Sorby's fundus dystrophy
-
250. Weber BHF, Bogt G, Pruett RC, Stohr H, Felbor U. 1994. Mutations in the tissue inhibitor of metalloproteinase-3 (TIMP3) in patients with Sorby's fundus dystrophy. Nat. Genet. 8:352-55
-
(1994)
Nat. Genet.
, vol.8
, pp. 352-355
-
-
Weber, B.H.F.1
Bogt, G.2
Pruett, R.C.3
Stohr, H.4
Felbor, U.5
-
259
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type 1B
-
251. Weil D, Blanchard S, Kaplan J, Gullford P, Gibson F, et al. 1995. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60-61
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
Gullford, P.4
Gibson, F.5
-
260
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
-
252. Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, et al. 1997. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat. Genet. 16:191-93
-
(1997)
Nat. Genet.
, vol.16
, pp. 191-193
-
-
Weil, D.1
Kussel, P.2
Blanchard, S.3
Levy, G.4
Levi-Acobas, F.5
-
261
-
-
0026581759
-
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin
-
253. Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, et al. 1992. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am. J. Hum. Genet. 50:498-507
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 498-507
-
-
Weitz, C.J.1
Miyake, Y.2
Shinzato, K.3
Montag, E.4
Zrenner, E.5
-
262
-
-
0026755953
-
Human tritanopia associated with a third amino acid substitution in the blue sensitive visual pigment gene
-
254. Weitz CJ, Went LN, Nathans J. 1992. Human tritanopia associated with a third amino acid substitution in the blue sensitive visual pigment gene. Am. J. Hum. Genet. 51:444-46
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 444-446
-
-
Weitz, C.J.1
Went, L.N.2
Nathans, J.3
-
264
-
-
0027434085
-
Phenotypic variation including retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/rds gene
-
256. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. 1993. Phenotypic variation including retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/rds gene. Arch. Ophthalmol. 111:1531-42
-
(1993)
Arch. Ophthalmol.
, vol.111
, pp. 1531-1542
-
-
Weleber, R.G.1
Carr, R.E.2
Murphey, W.H.3
Sheffield, V.C.4
Stone, E.M.5
-
266
-
-
0033538438
-
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
-
257a. Weng J, Mata NL, Azarian SM, Tzekov RD, Birch DG, Travis GH. 1999. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98:13-23
-
(1999)
Cell
, vol.98
, pp. 13-23
-
-
Weng, J.1
Mata, N.L.2
Azarian, S.M.3
Tzekov, R.D.4
Birch, D.G.5
Travis, G.H.6
-
267
-
-
0030775461
-
Gain of rod to horizontal cell synaptic transfer: Relation to glutamate release and a dihydropyridine-sensitive calcium current
-
258. Witkovsky P, Schmitz Y, Akopian A, Krizaj D, Tranchina D. 1997. Gain of rod to horizontal cell synaptic transfer: relation to glutamate release and a dihydropyridine-sensitive calcium current. J. Neurosci. 17:7297-306
-
(1997)
J. Neurosci.
, vol.17
, pp. 7297-7306
-
-
Witkovsky, P.1
Schmitz, Y.2
Akopian, A.3
Krizaj, D.4
Tranchina, D.5
-
268
-
-
0031038950
-
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
-
259. Yamamoto S, Sippel KC, Berson EL, Dryja TR. 1997. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat. Genet. 15:175-78
-
(1997)
Nat. Genet.
, vol.15
, pp. 175-178
-
-
Yamamoto, S.1
Sippel, K.C.2
Berson, E.L.3
Dryja, T.R.4
-
269
-
-
0033033364
-
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
-
259a. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. 1999. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat. Genet. 22:188-91
-
(1999)
Nat. Genet.
, vol.22
, pp. 188-191
-
-
Yamamoto, H.1
Simon, A.2
Eriksson, U.3
Harris, E.4
Berson, E.L.5
Dryja, T.P.6
-
271
-
-
0030911218
-
Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers
-
261. Yang R-B, Garbers DL. 1997. Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers. J. Biol. Chem. 272:13738-42
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 13738-13742
-
-
Yang, R.-B.1
Garbers, D.L.2
-
272
-
-
0028118719
-
Phototransduction mechanism in retinal rods and cones
-
262. Yau K-W. 1994. Phototransduction mechanism in retinal rods and cones. Invest. Ophthalmol. Vis. Sci. 35:9-32
-
(1994)
Invest. Ophthalmol. Vis. Sci.
, vol.35
, pp. 9-32
-
-
Yau, K.-W.1
-
273
-
-
0029975810
-
Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein
-
263. Yokota T, Shiojiri T, Gotoda T, Arai H. 1996. Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N. Engl J. Med. 335:1770-71
-
(1996)
N. Engl J. Med.
, vol.335
, pp. 1770-1771
-
-
Yokota, T.1
Shiojiri, T.2
Gotoda, T.3
Arai, H.4
-
274
-
-
0029998701
-
Structure and function of cyclic nucleotide-gated channels
-
264. Zagotta WN, Siegelbaum SA. 1996. Structure and function of cyclic nucleotide-gated channels. Annu. Rev. Neurosci. 19:235-63
-
(1996)
Annu. Rev. Neurosci.
, vol.19
, pp. 235-263
-
-
Zagotta, W.N.1
Siegelbaum, S.A.2
|