-
1
-
-
0037197854
-
Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa
-
Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 2002; 99:6328-33.
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 6328-6333
-
-
Kijas, J.W.1
Cideciyan, A.V.2
Aleman, T.S.3
Pianta, M.J.4
Pearce-Kelling, S.E.5
Miller, B.J.6
Jacobson, S.G.7
Aguirre, G.D.8
Acland, G.M.9
-
2
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001; 28:92-5.
-
(2001)
Nat. Genet.
, vol.28
, pp. 92-95
-
-
Acland, G.M.1
Aguirre, G.D.2
Ray, J.3
Zhang, Q.4
Aleman, T.S.5
Cideciyan, A.V.6
Pearce-Kelling, S.E.7
Anand, V.8
Zeng, Y.9
Maguire, A.M.10
Jacobson, S.G.11
Hauswirth, W.W.12
Bennett, J.13
-
3
-
-
0032991252
-
cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog
-
Petersen-Jones SM, Entz DD, Sargan DR. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest Ophthalmol Vis Sci 1999; 40:1637-44.
-
(1999)
Invest. Ophthalmol. Vis. Sci.
, vol.40
, pp. 1637-1644
-
-
Petersen-Jones, S.M.1
Entz, D.D.2
Sargan, D.R.3
-
4
-
-
0027262347
-
Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene
-
Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, Lee RH, Craft CM, Lolley RN, Baehr W, Hurwitz RL. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci U S A 1993; 90:3968-72.
-
(1993)
Proc. Natl. Acad. Sci. U. S. A.
, vol.90
, pp. 3968-3972
-
-
Suber, M.L.1
Pittler, S.J.2
Qin, N.3
Wright, G.C.4
Holcombe, V.5
Lee, R.H.6
Craft, C.M.7
Lolley, R.N.8
Baehr, W.9
Hurwitz, R.L.10
-
5
-
-
0032582425
-
Congenital stationary night blindness in the dog: Common mutation in the RPE65 gene indicates founder effect
-
Aguirre GD, Baldwin V, Pearce-Kelling S, Narfstrom K, Ray K, Acland GM. Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 1998; 4:23 (http://www.molvis.org/molvis/v4/a23/).
-
(1998)
Mol. Vis.
, vol.4
, pp. 23
-
-
Aguirre, G.D.1
Baldwin, V.2
Pearce-Kelling, S.3
Narfstrom, K.4
Ray, K.5
Acland, G.M.6
-
6
-
-
0036565892
-
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
-
Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 2002; 11:993-1003.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 993-1003
-
-
Zhang, Q.1
Acland, G.M.2
Wu, W.X.3
Johnson, J.L.4
Pearce-Kelling, S.5
Tulloch, B.6
Vervoort, R.7
Wright, A.F.8
Aguirre, G.D.9
-
7
-
-
0036667730
-
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
-
Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 2002; 11:1823-33.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1823-1833
-
-
Sidjanin, D.J.1
Lowe, J.K.2
McElwee, J.L.3
Milne, B.S.4
Phippen, T.M.5
Sargan, D.R.6
Aguirre, G.D.7
Acland, G.M.8
Ostrander, E.A.9
-
8
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997; 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
Bernstein, P.S.6
Peiffer, A.7
Zabriskie, N.A.8
Li, Y.9
Hutchinson, A.10
Dean, M.11
Lupski, J.R.12
Leppert, M.13
-
9
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Erratum in: Nat Genet 1997; 17:122
-
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997; 15:236-46. Erratum in: Nat Genet 1997; 17:122.
-
(1997)
Nat. Genet.
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
Shroyer, N.F.4
Hutchinson, A.5
Chidambaram, A.6
Gerrard, B.7
Baird, L.8
Stauffer, D.9
Peiffer, A.10
Rattner, A.11
Smallwood, P.12
Li, Y.13
Anderson, K.L.14
Lewis, R.A.15
Nathans, J.16
Leppert, M.17
Dean, M.18
Lupski, J.R.19
-
10
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 1998; 7:355-62.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 355-362
-
-
Cremers, F.P.1
van de Pol, D.J.2
van Driel, M.3
den Hollander, A.I.4
van Haren, F.J.5
Knoers, N.V.6
Tijmes, N.7
Bergen, A.A.8
Rohrschneider, K.9
Blankenagel, A.10
Pinckers, A.J.11
Deutman, A.F.12
Hoyng, C.B.13
-
11
-
-
0033794939
-
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
-
Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet 2000; 67:960-6.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 960-966
-
-
Maugeri, A.1
Klevering, B.J.2
Rohrschneider, K.3
Blankenagel, A.4
Brunner, H.G.5
Deutman, A.F.6
Hoyng, C.B.7
Cremers, F.P.8
-
12
-
-
0031230154
-
Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
-
Sun H, Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat Genet 1997; 17:15-6.
-
(1997)
Nat. Genet.
, vol.17
, pp. 15-16
-
-
Sun, H.1
Nathans, J.2
-
13
-
-
0032540879
-
Organization of the ABCR gene: Analysis of promoter and splice junction sequences
-
Allikmets R, Wasserman WW, Hutchinson A, Smallwood P, Nathans J, Rogan PK, Schneider TD, Dean M. Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene 1998; 215:111-22.
-
(1998)
Gene
, vol.215
, pp. 111-122
-
-
Allikmets, R.1
Wasserman, W.W.2
Hutchinson, A.3
Smallwood, P.4
Nathans, J.5
Rogan, P.K.6
Schneider, T.D.7
Dean, M.8
-
14
-
-
0023320690
-
Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds
-
Acland GM, Aguirre GD. Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds. Exp Eye Res 1987; 44:491-521.
-
(1987)
Exp. Eye Res.
, vol.44
, pp. 491-521
-
-
Acland, G.M.1
Aguirre, G.D.2
-
15
-
-
0023953459
-
Diagnosis and differentiation of retinal diseases in small animals by electroretinography
-
Acland GM. Diagnosis and differentiation of retinal diseases in small animals by electroretinography. Semin Vet Med Surg (Small Anim) 1988; 3:15-27.
-
(1988)
Semin Vet. Med. Surg. (Small Anim)
, vol.3
, pp. 15-27
-
-
Acland, G.M.1
-
16
-
-
0033566087
-
A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration
-
Acland GM, Ray K, Mellersh CS, Langston AA, Rine J, Ostrander EA, Aguirre GD. A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration. Genomics 1999; 59:134-42.
-
(1999)
Genomics
, vol.59
, pp. 134-142
-
-
Acland, G.M.1
Ray, K.2
Mellersh, C.S.3
Langston, A.A.4
Rine, J.5
Ostrander, E.A.6
Aguirre, G.D.7
-
17
-
-
0036139211
-
MEGA2: Molecular evolutionary genetics analysis software
-
Kumar S, Tamura K, Jakobsen IB, Nei M. MEGA2: molecular evolutionary genetics analysis software. Bioinformatics 2001; 17:1244-5.
-
(2001)
Bioinformatics
, vol.17
, pp. 1244-1245
-
-
Kumar, S.1
Tamura, K.2
Jakobsen, I.B.3
Nei, M.4
-
18
-
-
0032972599
-
DnaSP version 3: An integrated program for molecular population genetics and molecular evolution analysis
-
Rozas J, Rozas R. DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis. Bioinformatics 1999; 15:174-5.
-
(1999)
Bioinformatics
, vol.15
, pp. 174-175
-
-
Rozas, J.1
Rozas, R.2
-
19
-
-
0034764308
-
Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes
-
Breen M, Jouquand S, Renier C, Mellersh CS, Hitte C, Holmes NG, Cheron A, Suter N, Vignaux F, Bristow AE, Priat C, McCann E, Andre C, Boundy S, Gitsham P, Thomas R, Bridge WL, Spriggs HF, Ryder EJ, Curson A, Sampson J, Ostrander EA, Binns MM, Galibert F. Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes. Genome Res 2001; 11:1784-95.
-
(2001)
Genome Res.
, vol.11
, pp. 1784-1795
-
-
Breen, M.1
Jouquand, S.2
Renier, C.3
Mellersh, C.S.4
Hitte, C.5
Holmes, N.G.6
Cheron, A.7
Suter, N.8
Vignaux, F.9
Bristow, A.E.10
Priat, C.11
McCann, E.12
Andre, C.13
Boundy, S.14
Gitsham, P.15
Thomas, R.16
Bridge, W.L.17
Spriggs, H.F.18
Ryder, E.J.19
Curson, A.20
Sampson, J.21
Ostrander, E.A.22
Binns, M.M.23
Galibert, F.24
more..
-
20
-
-
0347928918
-
Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog
-
Akhmedov NB, Baldwin VJ, Zangerl B, Kijas JW, Hunter L, Minoofar KD, Mellersh C, Ostrander EA, Acland GM, Farber DB, Aguirre GD. Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog. Mol Vis 2002; 8:79-84 (http://www.molvis.org/molvis/v8/a11/).
-
(2002)
Mol. Vis.
, vol.8
, pp. 79-84
-
-
Akhmedov, N.B.1
Baldwin, V.J.2
Zangerl, B.3
Kijas, J.W.4
Hunter, L.5
Minoofar, K.D.6
Mellersh, C.7
Ostrander, E.A.8
Acland, G.M.9
Farber, D.B.10
Aguirre, G.D.11
-
21
-
-
0028343233
-
Automated construction of genetic linkage maps using an expert system (MultiMap): A human genome linkage map
-
Erratum in: Nat Genet 1994; 7:215
-
Matise TC, Perlin M, Chakravarti A. Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nat Genet 1994; 6:384-90. Erratum in: Nat Genet 1994; 7:215.
-
(1994)
Nat. Genet.
, vol.6
, pp. 384-390
-
-
Matise, T.C.1
Perlin, M.2
Chakravarti, A.3
-
22
-
-
0003421005
-
-
Sunderland (MA): Sinauer Associates
-
Li W. Molecular Evolution. Sunderland (MA): Sinauer Associates; 1997.
-
(1997)
Molecular Evolution
-
-
Li, W.1
-
23
-
-
0036917469
-
The ABCA4 gene in autosomal recessive cone-rod dystrophies
-
Ducroq D, Rozet JM, Gerber S, Perrault I, Barbet D, Hanein S, Hakiki S, Dufier JL, Munnich A, Hamel C, Kaplan J. The ABCA4 gene in autosomal recessive cone-rod dystrophies. Am J Hum Genet 2002; 71:1480-2.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1480-1482
-
-
Ducroq, D.1
Rozet, J.M.2
Gerber, S.3
Perrault, I.4
Barbet, D.5
Hanein, S.6
Hakiki, S.7
Dufier, J.L.8
Munnich, A.9
Hamel, C.10
Kaplan, J.11
-
24
-
-
0038348753
-
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
-
Fishman GA, Stone EM, Eliason DA, Taylor CM, Lindeman M, Derlacki DJ. ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. Arch Ophthalmol 2003; 121:851-5.
-
(2003)
Arch. Ophthalmol.
, vol.121
, pp. 851-855
-
-
Fishman, G.A.1
Stone, E.M.2
Eliason, D.A.3
Taylor, C.M.4
Lindeman, M.5
Derlacki, D.J.6
-
25
-
-
0036275421
-
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene
-
Klevering BJ, Blankenagel A, Maugeri A, Cremers FP, Hoyng CB, Rohrschneider K. Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene. Invest Ophthalmol Vis Sci 2002; 43:1980-5.
-
(2002)
Invest. Ophthalmol. Vis. Sci.
, vol.43
, pp. 1980-1985
-
-
Klevering, B.J.1
Blankenagel, A.2
Maugeri, A.3
Cremers, F.P.4
Hoyng, C.B.5
Rohrschneider, K.6
-
26
-
-
0033753625
-
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24
-
Khaliq S, Hameed A, Ismail M, Anwar K, Leroy BP, Mehdi SQ, Payne AM, Bhattacharya SS. Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24. Invest Ophthalmol Vis Sci 2000; 41:3709-12.
-
(2000)
Invest. Ophthalmol. Vis. Sci.
, vol.41
, pp. 3709-3712
-
-
Khaliq, S.1
Hameed, A.2
Ismail, M.3
Anwar, K.4
Leroy, B.P.5
Mehdi, S.Q.6
Payne, A.M.7
Bhattacharya, S.S.8
-
27
-
-
0034792909
-
CORD9 a new locus for arCRD: Mapping to 8p11, estimation of frequency, evaluation of a candidate gene
-
Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. Invest Ophthalmol Vis Sci 2001; 42:2458-65.
-
(2001)
Invest. Ophthalmol. Vis. Sci.
, vol.42
, pp. 2458-2465
-
-
Danciger, M.1
Hendrickson, J.2
Lyon, J.3
Toomes, C.4
McHale, J.C.5
Fishman, G.A.6
Inglehearn, C.F.7
Jacobson, S.G.8
Farber, D.B.9
-
28
-
-
0042828921
-
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
-
Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet 2003; 40:616-9.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 616-619
-
-
Hameed, A.1
Abid, A.2
Aziz, A.3
Ismail, M.4
Mehdi, S.Q.5
Khaliq, S.6
-
29
-
-
0030983124
-
The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
-
Azarian SM, Travis GH. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett 1997; 409:247-52.
-
(1997)
FEBS Lett.
, vol.409
, pp. 247-252
-
-
Azarian, S.M.1
Travis, G.H.2
-
30
-
-
0034095836
-
Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance
-
Runte M, Dekomien G, Epplen JT. Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance. Anim Genet 2000; 31:223-7.
-
(2000)
Anim. Genet.
, vol.31
, pp. 223-227
-
-
Runte, M.1
Dekomien, G.2
Epplen, J.T.3
-
31
-
-
2942518497
-
Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophy
-
Dekomien G, Epplen JT. Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophy. BMC Genet 2002; 3:12.
-
(2002)
BMC. Genet.
, vol.3
, pp. 12
-
-
Dekomien, G.1
Epplen, J.T.2
|