-
1
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B (1997a) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246
-
(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
-
2
-
-
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 (1997b) Mutation of the Stargardt Disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807
-
(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
-
3
-
-
0025183708
-
Basic local alignment search tool
-
Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
-
(1990)
J Mol Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
4
-
-
0025369509
-
A 3.5 genome equivalent multi access YAC library: Construction, characterisation, screening and storage
-
Anand R, Riley JH, Butler R, Smith JC, Markham AF (1990) A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage. Nucleic Acids Res 18:1951-1956
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 1951-1956
-
-
Anand, R.1
Riley, J.H.2
Butler, R.3
Smith, J.C.4
Markham, A.F.5
-
5
-
-
0023732713
-
A computer programme to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors
-
Attwood J, Bryant S (1988) A computer programme to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet 52:259
-
(1988)
Ann Hum Genet
, vol.52
, pp. 259
-
-
Attwood, J.1
Bryant, S.2
-
6
-
-
0000852818
-
-
Burmeister M, Ulanovsky I (eds). Humana Press, Totowa, NJ
-
Chandrasekharappa SC, Marchuk DA, Collins FS (1992) In: Burmeister M, Ulanovsky I (eds) Methods in molecular biology. Humana Press, Totowa, NJ, pp 235-257
-
(1992)
Methods in Molecular Biology
, pp. 235-257
-
-
Chandrasekharappa, S.C.1
Marchuk, D.A.2
Collins, F.S.3
-
7
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
Cremers FPM, Pol DJR van de, Driel M van, Hollander AI den, Haren FJJ van, Knoers NVAM, Tijmes N (1998) Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 7:355-362
-
(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
Knoers, N.V.A.M.6
Tijmes, N.7
-
8
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
9
-
-
0030027775
-
Is the incidence of registrable age-related macular degeneration increasing?
-
Evans J, Wormald R (1996) Is the incidence of registrable age-related macular degeneration increasing? Br J Ophthalmol 80:9-14
-
(1996)
Br J Ophthalmol
, vol.80
, pp. 9-14
-
-
Evans, J.1
Wormald, R.2
-
10
-
-
0029808361
-
The genetics of complex ophthalmic disorders
-
Evans K, Bird AC (1996) The genetics of complex ophthalmic disorders. Br J Ophthalmol 80:763-768
-
(1996)
Br J Ophthalmol
, vol.80
, pp. 763-768
-
-
Evans, K.1
Bird, A.C.2
-
11
-
-
0030746371
-
Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy
-
Evans K, Gregory CY, Wijesuriya SD, Kermani S, Jay MR, Plant C, Bird AC (1997) Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. Arch Ophthalmol 115:904-910
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 904-910
-
-
Evans, K.1
Gregory, C.Y.2
Wijesuriya, S.D.3
Kermani, S.4
Jay, M.R.5
Plant, C.6
Bird, A.C.7
-
12
-
-
0030035986
-
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16
-
Gregory CY, Evans K, Wijesuriya SD, Kermani S, Jay MR, Plant C, Cox N (1996) The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet 5:1055-1059
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1055-1059
-
-
Gregory, C.Y.1
Evans, K.2
Wijesuriya, S.D.3
Kermani, S.4
Jay, M.R.5
Plant, C.6
Cox, N.7
-
13
-
-
0344488813
-
Apial polarity of Na-K+-ATPase in retinal pigment epithelium is linked to a reversal of the ankyrin fodrin submembrane cytoskeleton
-
Gundersen D, Orlowski J, Rodriguez-Boulan E (1991) Apial polarity of Na-K+-ATPase in retinal pigment epithelium is linked to a reversal of the ankyrin fodrin submembrane cytoskeleton. Invest Ophthalmol Vis Sci 29:814-817
-
(1991)
Invest Ophthalmol Vis Sci
, vol.29
, pp. 814-817
-
-
Gundersen, D.1
Orlowski, J.2
Rodriguez-Boulan, E.3
-
14
-
-
9044240048
-
A radiation hybrid map of the human genome
-
Gyapay G, Schmitt K, Fizames C, Jones H, Vega-Czarny N, Spillett D, Muselet D (1996) A radiation hybrid map of the human genome. Hum Mol Genet 5:339-346
-
(1996)
Hum Mol Genet
, vol.5
, pp. 339-346
-
-
Gyapay, G.1
Schmitt, K.2
Fizames, C.3
Jones, H.4
Vega-Czarny, N.5
Spillett, D.6
Muselet, D.7
-
15
-
-
9044250844
-
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21
-
Héon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G (1996) Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol 114:193-198
-
(1996)
Arch Ophthalmol
, vol.114
, pp. 193-198
-
-
Héon, E.1
Piguet, B.2
Munier, F.3
Sneed, S.R.4
Morgan, C.M.5
Forni, S.6
Pescia, G.7
-
16
-
-
0027372405
-
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
-
Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, Odent S (1993) A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 5:308-311
-
(1993)
Nat Genet
, vol.5
, pp. 308-311
-
-
Kaplan, J.1
Gerber, S.2
Larget-Piet, D.3
Rozet, J.M.4
Dollfus, H.5
Dufier, J.L.6
Odent, S.7
-
17
-
-
0029127270
-
Localisation of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q
-
Kelsell RE, Godley BF, Evans K, Tiffen PAC, Gregory CY, Plant C, Moore AT (1995) Localisation of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet 4:1653-1656
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1653-1656
-
-
Kelsell, R.E.1
Godley, B.F.2
Evans, K.3
Tiffen, P.A.C.4
Gregory, C.Y.5
Plant, C.6
Moore, A.T.7
-
18
-
-
0027976168
-
Localisation of the gene for dominant cystoid macular dystrophy on chromosome 7p
-
Kremer H, Pinckers A, Helm B van den, Deutman AF, Ropers H-H, Mariman ECM (1994) Localisation of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum Mol Genet 3:299-302
-
(1994)
Hum Mol Genet
, vol.3
, pp. 299-302
-
-
Kremer, H.1
Pinckers, A.2
Van Den Helm, B.3
Deutman, A.F.4
Ropers, H.-H.5
Mariman, E.C.M.6
-
19
-
-
0025897085
-
Yeast artificial chromosome libraries containing large inserts from mouse and human DNA
-
Larin Z, Monaco AP, Lehrach H (1991) Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc Natl Acad Sci USA 88:4123-4127
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 4123-4127
-
-
Larin, Z.1
Monaco, A.P.2
Lehrach, H.3
-
21
-
-
0029939851
-
Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p
-
Lotery AJ, Hughes AE, Silvestri G, Ennis KT, Nicholl S, McGibbon D, Archer DB (1996) Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. Hum Mol Genet 5:705-708
-
(1996)
Hum Mol Genet
, vol.5
, pp. 705-708
-
-
Lotery, A.J.1
Hughes, A.E.2
Silvestri, G.3
Ennis, K.T.4
Nicholl, S.5
McGibbon, D.6
Archer, D.B.7
-
22
-
-
15844378213
-
A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MRS (1996) A gene (RPGR) with homology to the RCCI 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
Edgar, A.6
Carvalho, M.R.S.7
-
24
-
-
0014248704
-
Doyne's honeycomb retinal degeneration: Clinical and genetic features
-
Pearce WG (1968) Doyne's honeycomb retinal degeneration: clinical and genetic features. Br J Ophthalmol 52:73-78
-
(1968)
Br J Ophthalmol
, vol.52
, pp. 73-78
-
-
Pearce, W.G.1
-
25
-
-
17344364275
-
Identification of the gene responsible for Best macular dystrophy
-
Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandren O (1998) Identification of the gene responsible for Best macular dystrophy. Nat Genet 19:241-247
-
(1998)
Nat Genet
, vol.19
, pp. 241-247
-
-
Petrukhin, K.1
Koisti, M.J.2
Bakall, B.3
Li, W.4
Xie, G.5
Marknell, T.6
Sandren, O.7
-
26
-
-
0344919932
-
-
RetNet (1997) http://www.sph.uth.tmc.edu/Retnet/
-
(1997)
-
-
-
27
-
-
0026710901
-
North Carolina macular dystrophy is assigned to chromosome 6
-
Small KW, Weber JL, Roses A, Lennon F, Vance JM, Pericak-Vance MA (1992) North Carolina macular dystrophy is assigned to chromosome 6. Genomics 13:681-685
-
(1992)
Genomics
, vol.13
, pp. 681-685
-
-
Small, K.W.1
Weber, J.L.2
Roses, A.3
Lennon, F.4
Vance, J.M.5
Pericak-Vance, M.A.6
-
28
-
-
0344919905
-
North Carolina macular dystrophy (MCDR1) locus: A fine resolution genetic map and haplotype analysis
-
Small KW, Mullen L, Svetlana Y, Udar N, Klein R, Garcia C, Saperstein D (1997) North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. Am J Hum Genet 61:1722
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1722
-
-
Small, K.W.1
Mullen, L.2
Svetlana, Y.3
Udar, N.4
Klein, R.5
Garcia, C.6
Saperstein, D.7
-
29
-
-
0026895234
-
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
-
Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC (1992) Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1:246-250
-
(1992)
Nat Genet
, vol.1
, pp. 246-250
-
-
Stone, E.M.1
Nichols, B.E.2
Streb, L.M.3
Kimura, A.E.4
Sheffield, V.C.5
-
30
-
-
0028309553
-
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
-
Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack AV, Sheffield VC (1994) Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 112:765-772
-
(1994)
Arch Ophthalmol
, vol.112
, pp. 765-772
-
-
Stone, E.M.1
Nichols, B.E.2
Kimura, A.E.3
Weingeist, T.A.4
Drack, A.V.5
Sheffield, V.C.6
-
31
-
-
0026864615
-
An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids
-
Tagle DA, Collins FS (1992) An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum Mol Genet 1:121-122
-
(1992)
Hum Mol Genet
, vol.1
, pp. 121-122
-
-
Tagle, D.A.1
Collins, F.S.2
-
33
-
-
0029841724
-
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5 cM critical region and exclusion of candidate genes by physical mapping
-
Thiselton DL, Hampson RM, Nayudu M, Maldergem L van, Wolf ML, Saha BK, Bhattacharya SS (1996) Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5 cM critical region and exclusion of candidate genes by physical mapping. Genome Res 6:1093-1102
-
(1996)
Genome Res
, vol.6
, pp. 1093-1102
-
-
Thiselton, D.L.1
Hampson, R.M.2
Nayudu, M.3
Van Maldergem, L.4
Wolf, M.L.5
Saha, B.K.6
Bhattacharya, S.S.7
-
34
-
-
0028897394
-
YAC contigs covering an 8-megabase region of 3p deleted in the small cell lung cancer cell line U2020
-
Todd S, Roche J, Hahner L, Bolin R, Drabbin HA, Gremmil RM (1995) YAC contigs covering an 8-megabase region of 3p deleted in the small cell lung cancer cell line U2020. Genomics 25:19-28
-
(1995)
Genomics
, vol.25
, pp. 19-28
-
-
Todd, S.1
Roche, J.2
Hahner, L.3
Bolin, R.4
Drabbin, H.A.5
Gremmil, R.M.6
-
35
-
-
4244163319
-
Carney complex segregates with markers from the chromosome 2p16 CNC locus in two new kindreds: Placement of new markers and integration of genetic and physical mapping of the region
-
Vottero A, Lin J-P, Aksentijevich I, Kastner DL, Carney JA, Chrousos GP, Stratakis CA (1996) Carney complex segregates with markers from the chromosome 2p16 CNC locus in two new kindreds: placement of new markers and integration of genetic and physical mapping of the region. Am J Hum Genet 59:A240
-
(1996)
Am J Hum Genet
, vol.59
-
-
Vottero, A.1
Lin, J.-P.2
Aksentijevich, I.3
Kastner, D.L.4
Carney, J.A.5
Chrousos, G.P.6
Stratakis, C.A.7
-
36
-
-
0028304097
-
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter
-
Weber BHF, Vogt G, Wolz W, Ives EJ, Ewing CC (1994a) Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nat Genet 7:158-161
-
(1994)
Nat Genet
, vol.7
, pp. 158-161
-
-
Weber, B.H.F.1
Vogt, G.2
Wolz, W.3
Ives, E.J.4
Ewing, C.C.5
-
37
-
-
0028097367
-
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
-
Weber BHF, Vogt G, Pruett RC, Stohr H, Felbor U (1994b) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 8:352-356
-
(1994)
Nat Genet
, vol.8
, pp. 352-356
-
-
Weber, B.H.F.1
Vogt, G.2
Pruett, R.C.3
Stohr, H.4
Felbor, U.5
-
38
-
-
0027447531
-
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
-
Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein C, Jay M (1993) Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 3:213-218
-
(1993)
Nat Genet
, vol.3
, pp. 213-218
-
-
Wells, J.1
Wroblewski, J.2
Keen, J.3
Inglehearn, C.4
Jubb, C.5
Eckstein, C.6
Jay, M.7
-
39
-
-
0344919904
-
-
Whitehead Institute/MIT Center for Genome Research, Human Genetic Mapping Project, Data Release 10
-
Whitehead Institute/MIT Center for Genome Research, Human Genetic Mapping Project, Data Release 10 (1996) http://www-genome.wi.mit.edu/
-
(1996)
-
-
-
40
-
-
0029881620
-
Sorsky's fundus dystrophy in the British Isles: Demonstration of a striking founder effect by microsatellite-generated haplotypes
-
Wijesuriya SD, Evans K, Jay MR, Davison C, Weber BMF, Bird AC, Bhattacharya SS, et al. (1996) Sorsky's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res 6:92-101
-
(1996)
Genome Res
, vol.6
, pp. 92-101
-
-
Wijesuriya, S.D.1
Evans, K.2
Jay, M.R.3
Davison, C.4
Weber, B.M.F.5
Bird, A.C.6
Bhattacharya, S.S.7
-
41
-
-
0028366078
-
A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34
-
Zhang K, Bither PP, Park R, Donoso LA, Seidman JG, Seidman CE (1994) A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 112:759-764
-
(1994)
Arch Ophthalmol
, vol.112
, pp. 759-764
-
-
Zhang, K.1
Bither, P.P.2
Park, R.3
Donoso, L.A.4
Seidman, J.G.5
Seidman, C.E.6
|