-
1
-
-
0041328518
-
The genetics of inherited macular dystrophies
-
M. Michaelides, D.M. Hunt, and A.T. Moore The genetics of inherited macular dystrophies J Med Genet 40 2003 641 650
-
(2003)
J Med Genet
, vol.40
, pp. 641-650
-
-
Michaelides, M.1
Hunt, D.M.2
Moore, A.T.3
-
2
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
R. Allikmets, N. Singh, and H. Sun A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy Nat Genet 15 1997 236 246
-
(1997)
Nat Genet
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
-
3
-
-
0017052368
-
Fundus flavimaculatus. A clinical classification
-
G.A. Fishman Fundus flavimaculatus. A clinical classification Arch Ophthalmol 94 1976 2061 2067
-
(1976)
Arch Ophthalmol
, vol.94
, pp. 2061-2067
-
-
Fishman, G.A.1
-
4
-
-
36749074541
-
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy
-
M. Michaelides, L.L. Chen, and M.A. Brantley Jr. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy Br J Ophthalmol 91 2007 1650 1655
-
(2007)
Br J Ophthalmol
, vol.91
, pp. 1650-1655
-
-
Michaelides, M.1
Chen, L.L.2
Brantley, Jr.M.A.3
-
5
-
-
84877745361
-
A longitudinal study of Stargardt disease: Clinical and electrophysiologic assessment, progression, and genotype correlations
-
K. Fujinami, N. Lois, and A.E. Davidson A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations Am J Ophthalmol 155 2013 1075 1088
-
(2013)
Am J Ophthalmol
, vol.155
, pp. 1075-1088
-
-
Fujinami, K.1
Lois, N.2
Davidson, A.E.3
-
6
-
-
84887135603
-
The clinical effect of homozygous ABCA4 alleles in 18 patients
-
K. Fujinami, P.I. Sergouniotis, and A.E. Davidson The clinical effect of homozygous ABCA4 alleles in 18 patients Ophthalmology 120 2013 2324 2331
-
(2013)
Ophthalmology
, vol.120
, pp. 2324-2331
-
-
Fujinami, K.1
Sergouniotis, P.I.2
Davidson, A.E.3
-
7
-
-
84882263713
-
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function
-
K. Fujinami, P.I. Sergouniotis, and A.E. Davidson Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function Am J Ophthalmol 156 2013 487 501
-
(2013)
Am J Ophthalmol
, vol.156
, pp. 487-501
-
-
Fujinami, K.1
Sergouniotis, P.I.2
Davidson, A.E.3
-
8
-
-
84885466470
-
ABCA4 gene screening by next-generation sequencing in a British cohort
-
K. Fujinami, J. Zernant, and R.K. Chana ABCA4 gene screening by next-generation sequencing in a British cohort Invest Ophthalmol Vis Sci 54 2013 6662 6674
-
(2013)
Invest Ophthalmol Vis Sci
, vol.54
, pp. 6662-6674
-
-
Fujinami, K.1
Zernant, J.2
Chana, R.K.3
-
9
-
-
84896726239
-
Fine central macular dots associated with childhood-onset Stargardt Disease
-
[letter online]
-
K. Fujinami, R. Singh, and J. Carroll Fine central macular dots associated with childhood-onset Stargardt Disease [letter online] Acta Ophthalmol 92 2014 e157 e159
-
(2014)
Acta Ophthalmol
, vol.92
, pp. e157-e159
-
-
Fujinami, K.1
Singh, R.2
Carroll, J.3
-
10
-
-
84894541201
-
A longitudinal study of Stargardt disease: Quantitative assessment of fundus autofluorescence, progression and genotype correlations
-
K. Fujianami, N. Lois, and R. Mukherjee A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression and genotype correlations Invest Ophthalmol Vis Sci 54 2014 8181 8190
-
(2014)
Invest Ophthalmol Vis Sci
, vol.54
, pp. 8181-8190
-
-
Fujianami, K.1
Lois, N.2
Mukherjee, R.3
-
11
-
-
79954993016
-
Stargardt disease with preserved central vision: Identification of a putative novel mutation in ATP-binding cassette transporter gene
-
[letter online]
-
K. Fujinami, M. Akahori, and M. Fukui Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene [letter online] Acta Ophthalmol 89 2011 e297 e298
-
(2011)
Acta Ophthalmol
, vol.89
, pp. e297-e298
-
-
Fujinami, K.1
Akahori, M.2
Fukui, M.3
-
12
-
-
80051709984
-
Allelic and phenotypic heterogeneity in ABCA4 mutations
-
T.R. Burke, and S.H. Tsang Allelic and phenotypic heterogeneity in ABCA4 mutations Ophthalmic Genet 32 2011 165 174
-
(2011)
Ophthalmic Genet
, vol.32
, pp. 165-174
-
-
Burke, T.R.1
Tsang, S.H.2
-
13
-
-
0038321461
-
Visual acuity loss and clinical observations in a large series of patients with Stargardt disease
-
Y. Rotenstreich, G.A. Fishman, and R.J. Anderson Visual acuity loss and clinical observations in a large series of patients with Stargardt disease Ophthalmology 110 2003 1151 1158
-
(2003)
Ophthalmology
, vol.110
, pp. 1151-1158
-
-
Rotenstreich, Y.1
Fishman, G.A.2
Anderson, R.J.3
-
14
-
-
29544432413
-
Fundus autofluorescence in children and teenagers with hereditary retinal diseases
-
B. Wabbels, A. Demmler, and K. Paunescu Fundus autofluorescence in children and teenagers with hereditary retinal diseases Graefes Arch Clin Exp Ophthalmol 244 2006 36 45
-
(2006)
Graefes Arch Clin Exp Ophthalmol
, vol.244
, pp. 36-45
-
-
Wabbels, B.1
Demmler, A.2
Paunescu, K.3
-
15
-
-
84861882682
-
Clinical and genetic characteristics of late-onset Stargardt's disease
-
S.C. Westeneng-van Haaften, C.J. Boon, and F.P. Cremers Clinical and genetic characteristics of late-onset Stargardt's disease Ophthalmology 119 2012 1199 1210
-
(2012)
Ophthalmology
, vol.119
, pp. 1199-1210
-
-
Westeneng-Van Haaften, S.C.1
Boon, C.J.2
Cremers, F.P.3
-
16
-
-
0032900958
-
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
-
G.A. Fishman, E.M. Stone, and S. Grover Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene Arch Ophthalmol 117 1999 504 510
-
(1999)
Arch Ophthalmol
, vol.117
, pp. 504-510
-
-
Fishman, G.A.1
Stone, E.M.2
Grover, S.3
-
17
-
-
0034804936
-
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients
-
A. Fumagalli, M. Ferrari, and N. Soriani Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients Hum Genet 109 2001 326 338
-
(2001)
Hum Genet
, vol.109
, pp. 326-338
-
-
Fumagalli, A.1
Ferrari, M.2
Soriani, N.3
-
18
-
-
84863968530
-
Morphology and function of the retina in children and young adults with Stargardt dystrophy
-
M. Jarc-Vidmar, D. Perovsek, and D. Glavac Morphology and function of the retina in children and young adults with Stargardt dystrophy Zdrav Vestn 81 suppl 2012 I-51 I-60
-
(2012)
Zdrav Vestn
, vol.81
, pp. I51-I60
-
-
Jarc-Vidmar, M.1
Perovsek, D.2
Glavac, D.3
-
19
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
F.P. Cremers, D.J. van de Pol, and M. van Driel Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR Hum Mol Genet 7 1998 355 362
-
(1998)
Hum Mol Genet
, vol.7
, pp. 355-362
-
-
Cremers, F.P.1
Van De Pol, D.J.2
Van Driel, M.3
-
20
-
-
0034854473
-
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration
-
C.E. Briggs, D. Rucinski, and P.J. Rosenfeld Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration Invest Ophthalmol Vis Sci 42 2001 2229 2236
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 2229-2236
-
-
Briggs, C.E.1
Rucinski, D.2
Rosenfeld, P.J.3
-
21
-
-
0032540879
-
Organization of the ABCR gene: Analysis of promoter and splice junction sequences
-
R. Allikmets, W.W. Wasserman, and A. Hutchinson Organization of the ABCR gene: analysis of promoter and splice junction sequences Gene 215 1998 111 122
-
(1998)
Gene
, vol.215
, pp. 111-122
-
-
Allikmets, R.1
Wasserman, W.W.2
Hutchinson, A.3
-
22
-
-
84856077133
-
Analysis of the ABCA4 gene by next-generation sequencing
-
J. Zernant, C. Schubert, and K.M. Im Analysis of the ABCA4 gene by next-generation sequencing Invest Ophthalmol Vis Sci 52 2011 8479 8487
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 8479-8487
-
-
Zernant, J.1
Schubert, C.2
Im, K.M.3
-
23
-
-
13144294983
-
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
-
J.M. Rozet, S. Gerber, and E. Souied Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies Eur J Hum Genet 6 1998 291 295
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 291-295
-
-
Rozet, J.M.1
Gerber, S.2
Souied, E.3
-
24
-
-
0033071210
-
Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
-
R.A. Lewis, N.F. Shroyer, and N. Singh Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease Am J Hum Genet 64 1999 422 434
-
(1999)
Am J Hum Genet
, vol.64
, pp. 422-434
-
-
Lewis, R.A.1
Shroyer, N.F.2
Singh, N.3
-
25
-
-
0033804333
-
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
-
A. Rivera, K. White, and H. Stohr A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration Am J Hum Genet 67 2000 800 813
-
(2000)
Am J Hum Genet
, vol.67
, pp. 800-813
-
-
Rivera, A.1
White, K.2
Stohr, H.3
-
27
-
-
0035510172
-
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
-
N.F. Shroyer, R.A. Lewis, and A.N. Yatsenko Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration Hum Mol Genet 10 2001 2671 2678
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2671-2678
-
-
Shroyer, N.F.1
Lewis, R.A.2
Yatsenko, A.N.3
-
28
-
-
0036275421
-
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene
-
B.J. Klevering, A. Blankenagel, and A. Maugeri Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene Invest Ophthalmol Vis Sci 43 2002 1980 1985
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1980-1985
-
-
Klevering, B.J.1
Blankenagel, A.2
Maugeri, A.3
-
29
-
-
0038348753
-
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
-
G.A. Fishman, E.M. Stone, and D.A. Eliason ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy Arch Ophthalmol 121 2003 851 855
-
(2003)
Arch Ophthalmol
, vol.121
, pp. 851-855
-
-
Fishman, G.A.1
Stone, E.M.2
Eliason, D.A.3
-
30
-
-
22544466134
-
Genotype-phenotype correlation in Italian families with Stargardt disease
-
F. Simonelli, F. Testa, and J. Zernant Genotype-phenotype correlation in Italian families with Stargardt disease Ophthalmic Res 37 2005 159 167
-
(2005)
Ophthalmic Res
, vol.37
, pp. 159-167
-
-
Simonelli, F.1
Testa, F.2
Zernant, J.3
-
31
-
-
79955944090
-
Homozygosity mapping in patients with cone-rod dystrophy: Novel mutations and clinical characterizations
-
K.W. Littink, R.K. Koenekoop, and L.I. van den Born Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations Invest Ophthalmol Vis Sci 51 2010 5943 5951
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 5943-5951
-
-
Littink, K.W.1
Koenekoop, R.K.2
Van Den Born, L.I.3
-
32
-
-
80051519042
-
Further associations between mutations and polymorphisms in the ABCA4 gene: Clinical implication of allelic variants and their role as protector/risk factors
-
J. Aguirre-Lamban, J.J. Gonzalez-Aguilera, and R. Riveiro-Alvarez Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors Invest Ophthalmol Vis Sci 52 2011 6206 6212
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 6206-6212
-
-
Aguirre-Lamban, J.1
Gonzalez-Aguilera, J.J.2
Riveiro-Alvarez, R.3
-
33
-
-
84887187194
-
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: Retrospective analysis in 420 Spanish families
-
R. Riveiro-Alvarez, M.A. Lopez-Martinez, and J. Zernant Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families Ophthalmology 120 2013 2332 2337
-
(2013)
Ophthalmology
, vol.120
, pp. 2332-2337
-
-
Riveiro-Alvarez, R.1
Lopez-Martinez, M.A.2
Zernant, J.3
-
34
-
-
0033237315
-
The 2588G - >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
-
A. Maugeri, M.A. van Driel, and D.J. van de Pol The 2588G - >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 1999 1024 1035
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1024-1035
-
-
Maugeri, A.1
Van Driel, M.A.2
Van De Pol, D.J.3
-
35
-
-
0035092144
-
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
-
N. Lois, G.E. Holder, and C. Bunce Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus Arch Ophthalmol 119 2001 359 369
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 359-369
-
-
Lois, N.1
Holder, G.E.2
Bunce, C.3
-
36
-
-
84862761654
-
Progression of retinal pigment epithelial atrophy in Stargardt disease
-
V.A. McBain, J. Townend, and N. Lois Progression of retinal pigment epithelial atrophy in Stargardt disease Am J Ophthalmol 154 2012 146 154
-
(2012)
Am J Ophthalmol
, vol.154
, pp. 146-154
-
-
McBain, V.A.1
Townend, J.2
Lois, N.3
-
37
-
-
84857924549
-
Retinal structure, function, and molecular pathologic features in gyrate atrophy
-
P.I. Sergouniotis, A.E. Davidson, and E. Lenassi Retinal structure, function, and molecular pathologic features in gyrate atrophy Ophthalmology 119 2012 596 605
-
(2012)
Ophthalmology
, vol.119
, pp. 596-605
-
-
Sergouniotis, P.I.1
Davidson, A.E.2
Lenassi, E.3
-
38
-
-
59049100882
-
ISCEV standard for full-field clinical electroretinography (2008 update)
-
International Society for Clinical Electrophysiology of Vision
-
M.F. Marmor, A.B. Fulton, G.E. Holder International Society for Clinical Electrophysiology of Vision ISCEV standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 2009 69 77
-
(2009)
Doc Ophthalmol
, vol.118
, pp. 69-77
-
-
Marmor, M.F.1
Fulton, A.B.2
Holder, G.E.3
-
39
-
-
84872621224
-
ISCEV standard for clinical pattern electroretinography (PERG): 2012 update
-
M. Bach, M.G. Brigell, and M. Hawlina ISCEV standard for clinical pattern electroretinography (PERG): 2012 update Doc Ophthalmol 126 2013 1 7
-
(2013)
Doc Ophthalmol
, vol.126
, pp. 1-7
-
-
Bach, M.1
Brigell, M.G.2
Hawlina, M.3
-
40
-
-
0034691089
-
Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration
-
N.L. Mata, J. Weng, and G.H. Travis Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration Proc Natl Acad Sci U S A 97 2000 7154 7159
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 7154-7159
-
-
Mata, N.L.1
Weng, J.2
Travis, G.H.3
-
41
-
-
84860888442
-
Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy
-
S.M. Conley, X. Cai, and R. Makkia Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy Biochim Biophys Acta 1822 2012 1169 1179
-
(2012)
Biochim Biophys Acta
, vol.1822
, pp. 1169-1179
-
-
Conley, S.M.1
Cai, X.2
Makkia, R.3
|