-
2
-
-
0036071242
-
Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia
-
DOI 10.1086/341835
-
S. Kohl, B. Baumann, and T. Rosenberg Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia Am J Hum Genet 71 2002 422 425 (Pubitemid 34800258)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.2
, pp. 422-425
-
-
Kohl, S.1
Baumann, B.2
Rosenberg, T.3
Kellner, U.4
Lorenz, B.5
Vadala, M.6
Jacobson, S.G.7
Wissinger, B.8
-
3
-
-
0034284696
-
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
-
S. Kohl, B. Baumann, and M. Broghammer Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21 Hum Mol Genet 9 2000 2107 2116
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2107-2116
-
-
Kohl, S.1
Baumann, B.2
Broghammer, M.3
-
4
-
-
0031803762
-
Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
-
DOI 10.1038/935
-
S. Kohl, T. Marx, and I. Giddings Total colour blindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel Nat Genet 19 1998 257 259 (Pubitemid 28309337)
-
(1998)
Nature Genetics
, vol.19
, Issue.3
, pp. 257-259
-
-
Kohl, S.1
Marx, T.2
Giddings, I.3
Jagle, H.4
Jacobson, S.G.5
Apfelstedt-Sylla, E.6
Zrenner, E.7
Sharpe, L.T.8
Wissinger, B.9
-
5
-
-
68349107942
-
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
-
A.A. Thiadens, A.I. den Hollander, and S. Roosing Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders Am J Hum Genet 85 2009 240 247
-
(2009)
Am J Hum Genet
, vol.85
, pp. 240-247
-
-
Thiadens, A.A.1
Den Hollander, A.I.2
Roosing, S.3
-
6
-
-
33748639936
-
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans
-
DOI 10.1086/507568
-
H. Wu, J.A. Cowing, and M. Michaelides Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans Am J Hum Genet 79 2006 574 579 (Pubitemid 44384268)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.3
, pp. 574-579
-
-
Wu, H.1
Cowing, J.A.2
Michaelides, M.3
Wilkie, S.E.4
Jeffery, G.5
Jenkins, S.A.6
Mester, V.7
Bird, A.C.8
Robson, A.G.9
Holder, G.E.10
Moore, A.T.11
Hunt, D.M.12
Webster, A.R.13
-
7
-
-
0036667730
-
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
-
D.J. Sidjanin, J.K. Lowe, and J.L. McElwee Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 Hum Mol Genet 11 2002 1823 1833
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1823-1833
-
-
Sidjanin, D.J.1
Lowe, J.K.2
McElwee, J.L.3
-
8
-
-
34247146385
-
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2
-
DOI 10.1167/iovs.05-1468
-
B. Chang, M.S. Dacey, and N.L. Hawes Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2 Invest Ophthalmol Vis Sci 47 2006 5017 5021 (Pubitemid 46586408)
-
(2006)
Investigative Ophthalmology and Visual Science
, vol.47
, Issue.11
, pp. 5017-5021
-
-
Chang, B.1
Dacey, M.S.2
Hawes, N.L.3
Hitchcock, P.F.4
Milam, A.H.5
Atmaca-Sonmez, P.6
Nusinowitz, S.7
Heckenlively, J.R.8
-
9
-
-
34249987381
-
Restoration of cone vision in a mouse model of achromatopsia
-
DOI 10.1038/nm1596, PII NM1596
-
J.J. Alexander, Y. Umino, and D. Everhart Restoration of cone vision in a mouse model of achromatopsia Nat Med 13 2007 685 687 (Pubitemid 46889758)
-
(2007)
Nature Medicine
, vol.13
, Issue.6
, pp. 685-687
-
-
Alexander, J.J.1
Umino, Y.2
Everhart, D.3
Chang, B.4
Min, S.H.5
Li, Q.6
Timmers, A.M.7
Hawes, N.L.8
Pang, J.-J.9
Barlow, R.B.10
Hauswirth, W.W.11
-
10
-
-
33645388426
-
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism
-
DOI 10.1167/iovs.05-0783
-
D. Barthelmes, F.K. Sutter, and M.M. Kurz-Levin Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism Invest Ophthalmol Vis Sci 47 2006 1161 1166 (Pubitemid 46768352)
-
(2006)
Investigative Ophthalmology and Visual Science
, vol.47
, Issue.3
, pp. 1161-1166
-
-
Barthelmes, D.1
Sutter, F.K.2
Kurz-Levin, M.M.3
Bosch, M.M.4
Helbig, H.5
Niemeyer, G.6
Fleischhauer, J.C.7
-
11
-
-
34250201456
-
Optical coherence tomography of the macula in congenital achromatopsia
-
DOI 10.1167/iovs.06-1173
-
B. Varsanyi, G.M. Somfai, and B. Lesch Optical coherence tomography of the macula in congenital achromatopsia Invest Ophthalmol Vis Sci 48 2007 2249 2253 (Pubitemid 351261302)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.5
, pp. 2249-2253
-
-
Varsanyi, B.1
Somfai, G.M.2
Lesch, B.3
Vamos, R.4
Farkas, A.5
-
12
-
-
45549090024
-
Characterization of outer retinal morphology with high-speed, ultrahigh-resolution optical coherence tomography
-
V.J. Srinivasan, B.K. Monson, and M. Wojtkowski Characterization of outer retinal morphology with high-speed, ultrahigh-resolution optical coherence tomography Invest Ophthalmol Vis Sci 49 2008 1571 1579
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 1571-1579
-
-
Srinivasan, V.J.1
Monson, B.K.2
Wojtkowski, M.3
-
13
-
-
65349095584
-
High-speed ultrahigh resolution optical coherence tomography before and after ranibizumab for age-related macular degeneration
-
A.J. Witkin, L.N. Vuong, and V.J. Srinivasan High-speed ultrahigh resolution optical coherence tomography before and after ranibizumab for age-related macular degeneration Ophthalmology 116 2009 956 963
-
(2009)
Ophthalmology
, vol.116
, pp. 956-963
-
-
Witkin, A.J.1
Vuong, L.N.2
Srinivasan, V.J.3
-
15
-
-
0023272184
-
Distribution of cones in human and monkey retina: Individual variability and radial asymmetry
-
C.A. Curcio, K.R. Sloan Jr, and O. Packer Distribution of cones in human and monkey retina: individual variability and radial asymmetry Science 236 1987 579 582 (Pubitemid 17069926)
-
(1987)
Science
, vol.236
, Issue.4801
, pp. 579-582
-
-
Curcio, C.A.1
Sloan Jr., K.R.2
Packer, O.3
-
16
-
-
0021221125
-
The morphological development of the human fovea
-
A.E. Hendrickson, and C. Yuodelis The morphological development of the human fovea Ophthalmology 91 1984 603 612 (Pubitemid 14120064)
-
(1984)
Ophthalmology
, vol.91
, Issue.6
, pp. 603-612
-
-
Hendrickson, A.E.1
Yuodelis, C.2
-
17
-
-
0001091427
-
Congenital total color blindness: A clincopathological report
-
R. Harrison, D. Hoefnagel, and J.N. Hayward Congenital total color blindness: a clincopathological report Arch Ophthalmol 64 1960 685 692
-
(1960)
Arch Ophthalmol
, vol.64
, pp. 685-692
-
-
Harrison, R.1
Hoefnagel, D.2
Hayward, J.N.3
-
18
-
-
0013815678
-
Typical total monochromacy: A histological and psychophysical study
-
H.F. Falls, J.R. Wolter, and M. Alpern Typical total monochromacy: a histological and psychophysical study Arch Ophthalmol 74 1965 610 616
-
(1965)
Arch Ophthalmol
, vol.74
, pp. 610-616
-
-
Falls, H.F.1
Wolter, J.R.2
Alpern, M.3
-
19
-
-
0030249072
-
3-transducin immunoreactivity in hereditary cone degeneration (cd)
-
DOI 10.1006/exer.1996.0117
-
K.E. Gropp, A. Szel, and J.C. Huang Selective absence of cone outer segment beta 3-transducin immunoreactivity in hereditary cone degeneration (cd) Exp Eye Res 63 1996 285 296 (Pubitemid 26325118)
-
(1996)
Experimental Eye Research
, vol.63
, Issue.3
, pp. 285-296
-
-
Gropp, K.E.1
Szel, A.2
Huang, J.C.3
Acland, G.M.4
Farber, D.B.5
Aguirre, G.D.6
-
20
-
-
18244390994
-
Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3
-
DOI 10.1167/iovs.04-1503
-
S. Michalakis, H. Geiger, and S. Haverkamp Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3 Invest Ophthalmol Vis Sci 46 2005 1516 1524 (Pubitemid 41685898)
-
(2005)
Investigative Ophthalmology and Visual Science
, vol.46
, Issue.4
, pp. 1516-1524
-
-
Michalakis, S.1
Geiger, H.2
Haverkamp, S.3
Hofmann, F.4
Gerstner, A.5
Biel, M.6
-
21
-
-
0033595022
-
Selective loss of cone function in mice lacking the cyclic nucleotide- gated channel CNG3
-
DOI 10.1073/pnas.96.13.7553
-
M. Biel, M. Seeliger, and A. Pfeifer Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3 Proc Natl Acad Sci U S A 96 1999 7553 7557 (Pubitemid 29299700)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.13
, pp. 7553-7557
-
-
Biel, M.1
Seeliger, M.2
Pfeifer, A.3
Kohler, K.4
Gerstner, A.5
Ludwig, A.6
Jaissle, G.7
Fauser, S.8
Zrenner, E.9
Hofmann, F.10
-
22
-
-
68349100283
-
Genetic etiology and clinical consequences of complete and incomplete achromatopsia
-
A.A. Thiadens, N.W. Slingerland, and S. Roosing Genetic etiology and clinical consequences of complete and incomplete achromatopsia Ophthalmology 116 2009 1984 1989
-
(2009)
Ophthalmology
, vol.116
, pp. 1984-1989
-
-
Thiadens, A.A.1
Slingerland, N.W.2
Roosing, S.3
-
23
-
-
77949875842
-
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy
-
A.A. Thiadens, S. Roosing, and R.W. Collin Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy Ophthalmology 117 2010 825 830
-
(2010)
Ophthalmology
, vol.117
, pp. 825-830
-
-
Thiadens, A.A.1
Roosing, S.2
Collin, R.W.3
-
24
-
-
77950517860
-
Arrested development: High-resolution imaging of foveal morphology in albinism
-
J.T. McAllister, A.M. Dubis, and D.M. Tait Arrested development: high-resolution imaging of foveal morphology in albinism Vision Res 50 2010 810 817
-
(2010)
Vision Res
, vol.50
, pp. 810-817
-
-
McAllister, J.T.1
Dubis, A.M.2
Tait, D.M.3
-
25
-
-
0022480736
-
A qualitative and quantitative analysis of the human fovea during development
-
DOI 10.1016/0042-6989(86)90143-4
-
C. Yuodelis, and A. Hendrickson A qualitative and quantitative analysis of the human fovea during development Vision Res 26 1986 847 855 (Pubitemid 16071567)
-
(1986)
Vision Research
, vol.26
, Issue.6
, pp. 847-855
-
-
Yuodelis, C.1
Hendrickson, A.2
|