-
1
-
-
0002128296
-
Cone photopigments, opsin genes and retinal mosaics
-
Gegenfurtner K, Sharpe LT, editors. Cambridge: Cambridge University Press
-
Sharpe LT, Stockman A, Jägle H, Nathans J. Cone photopigments, opsin genes and retinal mosaics. In: Gegenfurtner K, Sharpe LT, editors. Color vision: from genes to perception. Cambridge: Cambridge University Press; 1999. p 3-51.
-
(1999)
Color Vision: From Genes to Perception
, pp. 3-51
-
-
Sharpe, L.T.1
Stockman, A.2
Jägle, H.3
Nathans, J.4
-
2
-
-
0022695490
-
Molecular genetic of human color vision: The genes encoding blue, green and red pigments
-
Nathans J, Thomas D, Hogness DS. Molecular genetic of human color vision: the genes encoding blue, green and red pigments. Science 1986;232:193-202.
-
(1986)
Science
, vol.232
, pp. 193-202
-
-
Nathans, J.1
Thomas, D.2
Hogness, D.S.3
-
3
-
-
0027436009
-
Genetic heterogeneity among blue cone monochromats
-
Nathans J, Maumenee IH, Zrenner E, Sadowski E, Sharpe LT, Lewis R, Hansen E, Rosenberg T, Schwartz M, Heckenlively J, Traboulski E, Klingaman R, Bech-Hansen T, LaRoche GR, Alcorn D, Pagan R, Murphy W, Weleber R. Genetic heterogeneity among blue cone monochromats. Am J Hum Genet 1993;53:987-1000.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 987-1000
-
-
Nathans, J.1
Maumenee, I.H.2
Zrenner, E.3
Sadowski, E.4
Sharpe, L.T.5
Lewis, R.6
Hansen, E.7
Rosenberg, T.8
Schwartz, M.9
Heckenlively, J.10
Traboulski, E.11
Klingaman, R.12
Bech-Hansen, T.13
Laroche, G.R.14
Alcorn, D.15
Pagan, R.16
Murphy, W.17
Weleber, R.18
-
4
-
-
0030915701
-
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
-
Arbour NC, Zlotogora J, Knowlton R, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997;6:689-694.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 689-694
-
-
Arbour, N.C.1
Zlotogora, J.2
Knowlton, R.3
Merin, S.4
Rosenmann, A.5
Kanis, A.B.6
Rokhlina, T.7
Stone, E.M.8
Sheffield, V.C.9
-
5
-
-
0344863172
-
Human rod monochromacy: Linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11
-
Wissinger B, Jägle H, Kohl S, Broghammer M, Baumann B, Hanna D, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics 1998;51:325-331.
-
(1998)
Genomics
, vol.51
, pp. 325-331
-
-
Wissinger, B.1
Jägle, H.2
Kohl, S.3
Broghammer, M.4
Baumann, B.5
Hanna, D.6
Hedels, C.7
Apfelstedt-Sylla, E.8
Randazzo, G.9
Jacobson, S.G.10
Zrenner, E.11
Sharpe, L.T.12
-
6
-
-
0033237814
-
Homozygosity mapping of the achromatopsia locus in the Pingelapese
-
Winick JD, Blundell ML, Galke BL, Salam AA, Leah SM, Karayiorgou M. Homozygosity mapping of the achromatopsia locus in the Pingelapese. Am J Hum Genet 1999;64:1679-1685.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1679-1685
-
-
Winick, J.D.1
Blundell, M.L.2
Galke, B.L.3
Salam, A.A.4
Leah, S.M.5
Karayiorgou, M.6
-
7
-
-
0032818484
-
A locus for autosomal recessive achromatopsia on human chromosome 8q
-
Milunsky A, Huang XL, Milunsky J, DeStefano A, Baldwin CT. A locus for autosomal recessive achromatopsia on human chromosome 8q. Clin Gen 1999;56:82-85.
-
(1999)
Clin Gen
, vol.56
, pp. 82-85
-
-
Milunsky, A.1
Huang, X.L.2
Milunsky, J.3
Destefano, A.4
Baldwin, C.T.5
-
8
-
-
0026574487
-
Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy
-
Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Gen 1992;50:690-699.
-
(1992)
Am J Hum Gen
, vol.50
, pp. 690-699
-
-
Pentao, L.1
Lewis, R.A.2
Ledbetter, D.H.3
Patel, P.I.4
Lupski, J.R.5
-
9
-
-
0030590488
-
Molecular cloning, functional expression and chromosomal localisation of a human homologue of the cyclic nucleotide-gated ion channel of retinal cone photoreceptors
-
Yu WP, Grunwald ME, Yau KW. Molecular cloning, functional expression and chromosomal localisation of a human homologue of the cyclic nucleotide-gated ion channel of retinal cone photoreceptors. FEBS Lett 1996;393:211-215.
-
(1996)
FEBS Lett
, vol.393
, pp. 211-215
-
-
Yu, W.P.1
Grunwald, M.E.2
Yau, K.W.3
-
10
-
-
0031428041
-
Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors
-
Wissinger B, Muller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E. Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors. Eur J Neurosci 1997;9:2512-2521.
-
(1997)
Eur J Neurosci
, vol.9
, pp. 2512-2521
-
-
Wissinger, B.1
Muller, F.2
Weyand, I.3
Schuffenhauer, S.4
Thanos, S.5
Kaupp, U.B.6
Zrenner, E.7
-
11
-
-
0031803762
-
Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
-
Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel. Nature Genetics 1998;19:257-259.
-
(1998)
Nature Genetics
, vol.19
, pp. 257-259
-
-
Kohl, S.1
Marx, T.2
Giddings, I.3
Jägle, H.4
Jacobson, S.G.5
Apfelstedt-Sylla, E.6
Zrenner, E.7
Sharpe, L.T.8
Wissinger, B.9
-
12
-
-
0033595022
-
Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3
-
Biel M, Seeliger M, Pfeifer A, Kohler K, Gerstner A, Ludwig A, Jaissle G, Fauser S, Zrenner E, Hofmann F. Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. Proc Natl Acad Sci 1999;96:7553-7557.
-
(1999)
Proc Natl Acad Sci
, vol.96
, 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
-
13
-
-
0000396617
-
Total colour-blindness: An introduction
-
Hess RF, Sharpe LT, Nordby K, editors. Cambridge: Cambridge University Press
-
Sharpe LT, Nordby K. Total colour-blindness: an introduction. In: Hess RF, Sharpe LT, Nordby K, editors. Night vision: Basic, clinical and applied aspects. Cambridge: Cambridge University Press; 1990. p. 253-289.
-
(1990)
Night Vision: Basic, Clinical and Applied Aspects
, pp. 253-289
-
-
Sharpe, L.T.1
Nordby, K.2
-
14
-
-
0025822625
-
Visual excitation and recovery
-
Stryer L. Visual excitation and recovery. J Biol Chem 1991;266: 10711-10714.
-
(1991)
J Biol Chem
, vol.266
, pp. 10711-10714
-
-
Stryer, L.1
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