-
1
-
-
66749117504
-
Molecular genetics and protein function involved in nocturnal vision
-
Zeitz C. Molecular genetics and protein function involved in nocturnal vision. Expert Rev Ophthalmol. 2007;2:467-485.
-
(2007)
Expert Rev Ophthalmol
, vol.2
, pp. 467-485
-
-
Zeitz, C.1
-
2
-
-
77951374758
-
Analysis of the human electroretinogram (in German)
-
Schubert G, Bornschein H. Analysis of the human electroretinogram (in German). Ophthalmologica. 1952;123:396-413.
-
(1952)
Ophthalmologica
, vol.123
, pp. 396-413
-
-
Schubert, G.1
Bornschein, H.2
-
3
-
-
0002485273
-
Electroretinography in cases of night blindness
-
Riggs LA. Electroretinography in cases of night blindness. Am J Ophthalmol. 1954;38:70-78.
-
(1954)
Am J Ophthalmol
, vol.38
, pp. 70-78
-
-
Riggs, L.A.1
-
4
-
-
0027248024
-
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
-
Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993;4:280-283.
-
(1993)
Nat Genet
, vol.4
, pp. 280-283
-
-
Dryja, T.P.1
Berson, E.L.2
Rao, V.R.3
Oprian, D.D.4
-
5
-
-
0028128535
-
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
-
Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994;7:551.
-
(1994)
Nat Genet
, vol.7
, pp. 551
-
-
Gal, A.1
Orth, U.2
Baehr, W.3
Schwinger, E.4
Rosenberg, T.5
-
6
-
-
0029112804
-
Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa
-
Sandberg MA, Weigel-DiFranco C, Dryja TP, Berson EL. Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1995;36: 1934-1942.
-
(1995)
Invest Ophthalmol Vis Sci
, vol.36
, pp. 1934-1942
-
-
Sandberg, M.A.1
Weigel-Difranco, C.2
Dryja, T.P.3
Berson, E.L.4
-
8
-
-
53149135064
-
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB
-
Zeitz C, Gross AK, Leifert D, et al. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci. 2008;49: 4105-4114.
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 4105-4114
-
-
Zeitz, C.1
Gross, A.K.2
Leifert, D.3
-
9
-
-
0029902034
-
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness
-
Dryja TP, Hahn LB, Reboul T, Arnaud B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet. 1996;13: 358-360.
-
(1996)
Nat Genet
, vol.13
, pp. 358-360
-
-
Dryja, T.P.1
Hahn, L.B.2
Reboul, T.3
Arnaud, B.4
-
10
-
-
34447647848
-
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness
-
Szabo V, Kreienkamp HJ, Rosenberg T, Gal A. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum Mutat. 2007;28:741-742.
-
(2007)
Hum Mutat
, vol.28
, pp. 741-742
-
-
Szabo, V.1
Kreienkamp, H.J.2
Rosenberg, T.3
Gal, A.4
-
11
-
-
38049001481
-
The negative ERG: Clinical phenotypes and disease mechanisms of inner retinal dysfunction
-
Audo I, Robson AG, Holder GE, Moore AT. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol. 2008;53:16-40.
-
(2008)
Surv Ophthalmol
, vol.53
, pp. 16-40
-
-
Audo, I.1
Robson, A.G.2
Holder, G.E.3
Moore, A.T.4
-
12
-
-
0033757466
-
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
-
Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet. 2000; 26:319-323.
-
(2000)
Nat Genet
, vol.26
, pp. 319-323
-
-
Bech-Hansen, N.T.1
Naylor, M.J.2
Maybaum, T.A.3
-
13
-
-
0033762779
-
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
-
Pusch CM, Zeitz C, Brandau O, et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 2000;26:324-327.
-
(2000)
Nat Genet
, vol.26
, pp. 324-327
-
-
Pusch, C.M.1
Zeitz, C.2
Brandau, O.3
-
14
-
-
16344363011
-
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6
-
Dryja TP, McGee TL, Berson EL, et al. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A. 2005;102:4884-4889.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 4884-4889
-
-
Dryja, T.P.1
McGee, T.L.2
Berson, E.L.3
-
15
-
-
33644701685
-
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
-
Zeitz C, van Genderen M, Neidhardt J, et al. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci. 2005;46:4328-4335.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 4328-4335
-
-
Zeitz, C.1
van Genderen, M.2
Neidhardt, J.3
-
16
-
-
71849117485
-
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness
-
van Genderen MM, Bijveld MM, Claassen YB, et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009;85:730-736.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 730-736
-
-
van Genderen, M.M.1
Bijveld, M.M.2
Claassen, Y.B.3
-
17
-
-
72149101903
-
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
-
Audo I, Kohl S, Leroy BP, et al. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009;85:720-729.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 720-729
-
-
Audo, I.1
Kohl, S.2
Leroy, B.P.3
-
18
-
-
71849089234
-
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
-
Li Z, Sergouniotis PI, Michaelides M, et al. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet. 2009;85:711-719.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 711-719
-
-
Li, Z.1
Sergouniotis, P.I.2
Michaelides, M.3
-
19
-
-
33749005104
-
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
-
Zeitz C, Kloeckener-Gruissem B, Forster U, et al. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006;79: 657-667.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 657-667
-
-
Zeitz, C.1
Kloeckener-Gruissem, B.2
Forster, U.3
-
20
-
-
17344366487
-
An L-type calciumchannel gene mutated in incomplete X-linked congenital stationary night blindness
-
Strom TM, Nyakatura G, pfelstedt-Sylla E, et al. An L-type calciumchannel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998;19:260-263.
-
(1998)
Nat Genet
, vol.19
, pp. 260-263
-
-
Strom, T.M.1
Nyakatura, G.2
Pfelstedt-Sylla, E.3
-
21
-
-
0041104621
-
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
-
Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 1998;19:264-267.
-
(1998)
Nat Genet
, vol.19
, pp. 264-267
-
-
Bech-Hansen, N.T.1
Naylor, M.J.2
Maybaum, T.A.3
-
22
-
-
77957755097
-
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness
-
Riazuddin SA, Shahzadi A, Zeitz C, et al. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 2010;87:523-531.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 523-531
-
-
Riazuddin, S.A.1
Shahzadi, A.2
Zeitz, C.3
-
23
-
-
0022993799
-
Identification of specific transducin alpha subunits in retinal rod and cone photoreceptors
-
Lerea CL, Somers DE, Hurley JB, Klock IB, Bunt-Milam AH. Identification of specific transducin alpha subunits in retinal rod and cone photoreceptors. Science. 1986;234:77-80.
-
(1986)
Science
, vol.234
, pp. 77-80
-
-
Lerea, C.L.1
Somers, D.E.2
Hurley, J.B.3
Klock, I.B.4
Bunt-Milam, A.H.5
-
24
-
-
0000519923
-
Flow of information in the lighttriggered cyclic nucleotide cascade of vision
-
Fung BK, Hurley JB, Stryer L. Flow of information in the lighttriggered cyclic nucleotide cascade of vision. Proc Natl Acad Sci U S A. 1981;78:152-156.
-
(1981)
Proc Natl Acad Sci U S A
, vol.78
, pp. 152-156
-
-
Fung, B.K.1
Hurley, J.B.2
Stryer, L.3
-
25
-
-
0027722981
-
Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22
-
Ngo JT, Bateman JB, Klisak I, et al. Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22. Genomics. 1993;18:724-725.
-
(1993)
Genomics
, vol.18
, pp. 724-725
-
-
Ngo, J.T.1
Bateman, J.B.2
Klisak, I.3
-
26
-
-
0027275667
-
Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)
-
Morris TA, Fong SL. Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2). Genomics. 1993;17:442-448.
-
(1993)
Genomics
, vol.17
, pp. 442-448
-
-
Morris, T.A.1
Fong, S.L.2
-
27
-
-
0027352613
-
Interaction of rhodopsin with the G-protein, transducin
-
Hargrave PA, Hamm HE, Hofmann KP. Interaction of rhodopsin with the G-protein, transducin. Bioessays. 1993;15:43-50.
-
(1993)
Bioessays
, vol.15
, pp. 43-50
-
-
Hargrave, P.A.1
Hamm, H.E.2
Hofmann, K.P.3
-
28
-
-
33750622785
-
G-protein alpha and beta-gamma subunits interact with conformationally distinct signaling states of rhodopsin
-
Downs MA, Arimoto R, Marshall GR, Kisselev OG. G-protein alpha and beta-gamma subunits interact with conformationally distinct signaling states of rhodopsin. Vision Res. 2006;46:4442-4448.
-
(2006)
Vision Res
, vol.46
, pp. 4442-4448
-
-
Downs, M.A.1
Arimoto, R.2
Marshall, G.R.3
Kisselev, O.G.4
-
29
-
-
77952296991
-
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
-
Kaul H, Riazuddin SA, Shahid M, et al. Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis. 2010;16:511-517.
-
(2010)
Mol Vis
, vol.16
, pp. 511-517
-
-
Kaul, H.1
Riazuddin, S.A.2
Shahid, M.3
-
30
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36:460-465.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
32
-
-
34248137448
-
CTRP5 is a membraneassociated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion
-
Mandal MN, Vasireddy V, Reddy GB, et al. CTRP5 is a membraneassociated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Invest Ophthalmol Vis Sci. 2006;47:5505-5513.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 5505-5513
-
-
Mandal, M.N.1
Vasireddy, V.2
Reddy, G.B.3
-
33
-
-
27244449177
-
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation
-
Ayyagari R, Mandal MN, Karoukis AJ, et al. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005;46: 3363-3371.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 3363-3371
-
-
Ayyagari, R.1
Mandal, M.N.2
Karoukis, A.J.3
-
34
-
-
0033031796
-
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
-
Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999;22:248-254.
-
(1999)
Nat Genet
, vol.22
, pp. 248-254
-
-
Pierce, E.A.1
Quinn, T.2
Meehan, T.3
McGee, T.L.4
Berson, E.L.5
Dryja, T.P.6
-
35
-
-
0032989251
-
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
-
Sullivan LS, Heckenlively JR, Bowne SJ, et al. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet. 1999;22:255-259.
-
(1999)
Nat Genet
, vol.22
, pp. 255-259
-
-
Sullivan, L.S.1
Heckenlively, J.R.2
Bowne, S.J.3
-
36
-
-
0032838642
-
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus
-
Guillonneau X, Piriev NI, Danciger M, et al. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet. 1999;8:1541-1546.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1541-1546
-
-
Guillonneau, X.1
Piriev, N.I.2
Danciger, M.3
-
37
-
-
23244442757
-
Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families
-
Riazuddin SA, Zulfiqar F, Zhang Q, et al. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci. 2005;46:2264-2270.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 2264-2270
-
-
Riazuddin, S.A.1
Zulfiqar, F.2
Zhang, Q.3
-
38
-
-
0036844004
-
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q
-
Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet. 2002;71:1216-1221.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1216-1221
-
-
Mackay, D.S.1
Boskovska, O.B.2
Knopf, H.L.3
Lampi, K.J.4
Shiels, A.5
-
39
-
-
34250176540
-
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract
-
Cohen D, Bar-Yosef U, Levy J, et al. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci. 2007;48:2208-2213.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 2208-2213
-
-
Cohen, D.1
Bar-Yosef, U.2
Levy, J.3
|