-
1
-
-
0029240412
-
Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database
-
Allikmets R, Gerrard B, Glavac D, Ravnik-Glavac M, Jenkins NA, Gilbert DJ, Copeland NG, et al (1995) Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database. Mamm Genome 6: 114-117
-
(1995)
Mamm Genome
, vol.6
, pp. 114-117
-
-
Allikmets, R.1
Gerrard, B.2
Glavac, D.3
Ravnik-Glavac, M.4
Jenkins, N.A.5
Gilbert, D.J.6
Copeland, N.G.7
-
2
-
-
0029820166
-
Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database
-
Allikmets R, Gerrard B, Hutchinson A, Dean M (1996) Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the Expressed Sequence Tags database. Hum Mol Genet 5:1649-1655
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1649-1655
-
-
Allikmets, R.1
Gerrard, B.2
Hutchinson, A.3
Dean, M.4
-
3
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein P, Peiffer A, et al (1997a) 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.6
Peiffer, A.7
-
4
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Correction [1977] Nat Genet 17:122
-
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, et al (1997b) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246 (Correction [1977] Nat Genet 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
-
5
-
-
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, et al (1998) Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene 215:111-122
-
(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
-
6
-
-
0028802713
-
A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p
-
Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR (1995) A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet 57:1351-1363
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1351-1363
-
-
Anderson, K.L.1
Baird, L.2
Lewis, R.A.3
Chinault, A.C.4
Otterud, B.5
Leppert, M.6
Lupski, J.R.7
-
7
-
-
0031940916
-
Long-term follow-up of Stargardt's disease and fundus flavimaculatus
-
Armstrong JD, Meyer D, Xu S, Elfervig JL (1998) Long-term follow-up of Stargardt's disease and fundus flavimaculatus. Ophthalmology 105:448-458
-
(1998)
Ophthalmology
, vol.105
, pp. 448-458
-
-
Armstrong, J.D.1
Meyer, D.2
Xu, S.3
Elfervig, J.L.4
-
8
-
-
0031903140
-
The human photoreceptor rim protein gene (ABCR): Genomic structure and primer set information for mutation analysis
-
Azarian SM, Megarity CF, Weng J, Horvath DH, Travis GH (1998) The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis. Hum Genet 102:699-705
-
(1998)
Hum Genet
, vol.102
, pp. 699-705
-
-
Azarian, S.M.1
Megarity, C.F.2
Weng, J.3
Horvath, D.H.4
Travis, G.H.5
-
9
-
-
0030983124
-
The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive stargardt's disease (ABCR)
-
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 409:247-252
-
(1997)
FEBS Lett
, vol.409
, pp. 247-252
-
-
Azarian, S.M.1
Travis, G.H.2
-
10
-
-
0002468579
-
Fundus flavimaculatus
-
Newsome DA (ed). Raven Press, New York
-
Blacharski PA (1988) Fundus flavimaculatus. In: Newsome DA (ed) Retinal dystrophies and degenerations. Raven Press, New York, pp 135-159
-
(1988)
Retinal Dystrophies and Degenerations
, pp. 135-159
-
-
Blacharski, P.A.1
-
12
-
-
0018185292
-
Molecular basis of base substitution hotspots in Escherichia coli
-
Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775-780
-
(1978)
Nature
, vol.274
, pp. 775-780
-
-
Coulondre, C.1
Miller, J.H.2
Farabaugh, P.J.3
Gilbert, W.4
-
13
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
Cremers FPM, van de Pol DJR, van Driel M, den Hollander AI, van Haren FJJ, Knoers NVAM, Tijmes N, 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 7:355-362
-
(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
-
14
-
-
0030759333
-
Prediction of transmembrane α-helices in prokaryotic membrane proteins: The dense alignment surface method
-
Cserzo M, Wallin E, Simon I, von Heijne G, Elofsson A (1997) Prediction of transmembrane α-helices in prokaryotic membrane proteins: the dense alignment surface method. Protein Eng 10:673-676
-
(1997)
Protein Eng
, vol.10
, pp. 673-676
-
-
Cserzo, M.1
Wallin, E.2
Simon, I.3
Von Heijne, G.4
Elofsson, A.5
-
15
-
-
0029586715
-
Evolution of ATP-binding cassette transporter genes
-
Dean M, Allikmets R (1995) Evolution of ATP-binding cassette transporter genes. Curr Opin Genet Dev 5:779-785
-
(1995)
Curr Opin Genet Dev
, vol.5
, pp. 779-785
-
-
Dean, M.1
Allikmets, R.2
-
16
-
-
0000869294
-
ABCR gene and age-related macular degeneration
-
Dean M, Allikmets R, Shroyer NF, Lupski JR, Lewis RA, Leppert M, Bernstein PS, et al (1998) ABCR gene and age-related macular degeneration. Science 279:1107 (full text, http://www.sciencemag.org /cgi/content/full/279/5354/1107a)
-
(1998)
Science
, vol.279
, pp. 1107
-
-
Dean, M.1
Allikmets, R.2
Shroyer, N.F.3
Lupski, J.R.4
Lewis, R.A.5
Leppert, M.6
Bernstein, P.S.7
-
17
-
-
0002204117
-
Über tapeto-retinale degenerationen im kindesalter
-
von Sautter H (ed). Ferdinand Enke Verlag, Stuttgart
-
Franceschetti A (1963) Über tapeto-retinale Degenerationen im Kindesalter. In: von Sautter H (ed) Entwicklung und Fortschritt in der Augenheilkunde. Ferdinand Enke Verlag, Stuttgart, pp 107-120
-
(1963)
Entwicklung und Fortschritt in der Augenheilkunde
, pp. 107-120
-
-
Franceschetti, A.1
-
18
-
-
0022405410
-
A clinical review of stargardt's disease and/or fundus flavimaculatus with follow-up
-
Gelisken O, DeLaey JJ (1985) A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up. Int Ophthalmol 8:225-236
-
(1985)
Int Ophthalmol
, vol.8
, pp. 225-236
-
-
Gelisken, O.1
DeLaey, J.J.2
-
19
-
-
0028796802
-
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13
-
Gerber S, Rozet J-M, Bonneau D, Souied E, Camuzat A, Dufier J-L, Amalric P, et al (1995) A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am J Hum Genet 56:396-399
-
(1995)
Am J Hum Genet
, vol.56
, pp. 396-399
-
-
Gerber, S.1
Rozet, J.-M.2
Bonneau, D.3
Souied, E.4
Camuzat, A.5
Dufier, J.-L.6
Amalric, P.7
-
20
-
-
0031913443
-
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease
-
Gerber S, Rozet JM, van de Pol TJR, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, et al (1998) Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics 48:139-142
-
(1998)
Genomics
, vol.48
, pp. 139-142
-
-
Gerber, S.1
Rozet, J.M.2
Van De Pol, T.J.R.3
Hoyng, C.B.4
Munnich, A.5
Blankenagel, A.6
Kaplan, J.7
-
21
-
-
0017191706
-
Fundus flavimaculatus and Stargardt's disease
-
Hadden OB, Gass JDM (1976) Fundus flavimaculatus and Stargardt's disease. Am J Ophthalmol 82:527-539
-
(1976)
Am J Ophthalmol
, vol.82
, pp. 527-539
-
-
Hadden, O.B.1
Gass, J.D.M.2
-
22
-
-
0029790616
-
Genetic fine mapping of the gene for recessive stargardt disease
-
Hoyng CB, Poppelaars F, van de Pol TJR, Kremer H, Pinckers AJLG, Deutman AF, Cremers FPM (1996) Genetic fine mapping of the gene for recessive Stargardt disease. Hum Genet 98:500-504
-
(1996)
Hum Genet
, vol.98
, pp. 500-504
-
-
Hoyng, C.B.1
Poppelaars, F.2
Van De Pol, T.J.R.3
Kremer, H.4
Pinckers, A.J.L.G.5
Deutman, A.F.6
Cremers, F.P.M.7
-
23
-
-
0030969303
-
The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
-
Illing M, Molday LL, Molday RS (1997) The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem 272: 10303-10310
-
(1997)
J Biol Chem
, vol.272
, pp. 10303-10310
-
-
Illing, M.1
Molday, L.L.2
Molday, R.S.3
-
24
-
-
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 J-M, Dollfus H, Dufier J-L, Odent S, et al (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
-
25
-
-
0014108191
-
Fundus flavimaculatus: Clinical, functional and histopathologic observations
-
Klein BA, Krill AE (1967) Fundus flavimaculatus: clinical, functional and histopathologic observations. Am J Ophthalmol 64:3-23
-
(1967)
Am J Ophthalmol
, vol.64
, pp. 3-23
-
-
Klein, B.A.1
Krill, A.E.2
-
26
-
-
0026681119
-
Prevalence of age-related maculopathy: The Beaver Dam eye study
-
Klein R, Klein BEK, Linton KLP (1992) Prevalence of age-related maculopathy: the Beaver Dam eye study. Ophthalmology 99:933-943
-
(1992)
Ophthalmology
, vol.99
, pp. 933-943
-
-
Klein, R.1
Klein, B.E.K.2
Linton, K.L.P.3
-
27
-
-
0017895896
-
Subretinal neovascularization associated with fundus flavimaculatus
-
Klein R, Lewis RA, Myers SM, Myers FL (1978) Subretinal neovascularization associated with fundus flavimaculatus. Arch Ophthalmol 96:2054-2057
-
(1978)
Arch Ophthalmol
, vol.96
, pp. 2054-2057
-
-
Klein, R.1
Lewis, R.A.2
Myers, S.M.3
Myers, F.L.4
-
28
-
-
0031568891
-
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21
-
Martinez-Mir A, Bayes M, Vilageliu L, Grinberg D, Ayuso C, del Rio T, Garcia-Sandoval B, et al (1997) A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics 40:142-146
-
(1997)
Genomics
, vol.40
, pp. 142-146
-
-
Martinez-Mir, A.1
Bayes, M.2
Vilageliu, L.3
Grinberg, D.4
Ayuso, C.5
Del Rio, T.6
Garcia-Sandoval, B.7
-
29
-
-
0031606609
-
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
-
Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, 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
Ayuso, C.4
Del Rio, T.5
Dean, M.6
Vilageliu, L.7
-
32
-
-
0031922842
-
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease
-
Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BHF (1998) Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-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
-
33
-
-
0018308824
-
Stargardt's disease and fundus flavimaculatus
-
Noble KG, Carr RE (1979) Stargardt's disease and fundus flavimaculatus. Arch Ophthalmol 97:1281-1285
-
(1979)
Arch Ophthalmol
, vol.97
, pp. 1281-1285
-
-
Noble, K.G.1
Carr, R.E.2
-
34
-
-
0027314668
-
Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene
-
Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, et al (1993) Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96-101
-
(1993)
N Engl J Med
, vol.329
, pp. 96-101
-
-
Roa, B.B.1
Garcia, C.A.2
Suter, U.3
Kulpa, D.A.4
Wise, C.A.5
Mueller, J.6
Welcher, A.A.7
-
35
-
-
13144294983
-
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
-
Rozet J-M, Gerber S, Souied E, Perrault I, Châtelin S, Ghazi I, Leowski C, et al (1998) Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet 6:291-295
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 291-295
-
-
Rozet, J.-M.1
Gerber, S.2
Souied, E.3
Perrault, I.4
Châtelin, S.5
Ghazi, I.6
Leowski, C.7
-
36
-
-
0031569858
-
Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human
-
Savary S, Allikmets R, Denizot F, Luciani M-F, Mattei M-G, Dean M, Chimini G (1997) Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. Genomics 41:275-278
-
(1997)
Genomics
, vol.41
, pp. 275-278
-
-
Savary, S.1
Allikmets, R.2
Denizot, F.3
Luciani, M.-F.4
Mattei, M.-G.5
Dean, M.6
Chimini, G.7
-
37
-
-
34347130460
-
Über familiäre, progressive degeneration in der Maculagegend des auges
-
Stargardt K (1909) Über familiäre, progressive Degeneration in der Maculagegend des Auges. Albrecht von Graefes Arch Ophthalmol 71:534-550
-
(1909)
Albrecht Von Graefes Arch Ophthalmol
, vol.71
, pp. 534-550
-
-
Stargardt, K.1
-
38
-
-
0031230154
-
Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
-
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
-
39
-
-
0029831329
-
Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases
-
Weber BHF, Sander S, Kopp C, Walker D, Eckstein A, Wissinger B, Zrenner E, et al (1996) Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases. Br J Ophthalmol 80:745-749
-
(1996)
Br J Ophthalmol
, vol.80
, pp. 745-749
-
-
Weber, B.H.F.1
Sander, S.2
Kopp, C.3
Walker, D.4
Eckstein, A.5
Wissinger, B.6
Zrenner, E.7
-
40
-
-
0029616734
-
Cystic fibrosis: Genotypic and phenotypic variations
-
Zielenski J, Tsui L-C (1995) Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 29:777-807
-
(1995)
Annu Rev Genet
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.-C.2
|