-
1
-
-
0022528965
-
Congenital stationary night blindness with negative electroretinogram. A new classification
-
1:STN:280:BimB28fkvVQ%3D 3488053
-
Y Miyake K Yagasaki M Horiguchi Y Kawase T Kanda 1986 Congenital stationary night blindness with negative electroretinogram. A new classification Arch Ophthalmol 104 7 1013-1020 1:STN:280:BimB28fkvVQ%3D 3488053
-
(1986)
Arch Ophthalmol
, vol.104
, Issue.7
, pp. 1013-1020
-
-
Miyake, Y.1
Yagasaki, K.2
Horiguchi, M.3
Kawase, Y.4
Kanda, T.5
-
2
-
-
0031789648
-
Rod and cone function in the Nougaret form of stationary night blindness
-
1:STN:280:DyaK1czkslKhsw%3D%3D 9682699
-
MA Sandberg BS Pawlyk J Dan B Arnaud TP Dryja EL Berson 1998 Rod and cone function in the Nougaret form of stationary night blindness Arch Ophthalmol 116 7 867-872 1:STN:280:DyaK1czkslKhsw%3D%3D 9682699
-
(1998)
Arch Ophthalmol
, vol.116
, Issue.7
, pp. 867-872
-
-
Sandberg, M.A.1
Pawlyk, B.S.2
Dan, J.3
Arnaud, B.4
Dryja, T.P.5
Berson, E.L.6
-
3
-
-
0026409215
-
Autosomal dominant stationary night-blindness. A large family rediscovered
-
1:STN:280:By2C28%2FkvVI%3D
-
T Rosenberg M Haim Y Piczenik SE Simonsen 1991 Autosomal dominant stationary night-blindness. A large family rediscovered Acta Ophthalmol (Copenhagen) 69 6 694-702 1:STN:280:By2C28%2FkvVI%3D
-
(1991)
Acta Ophthalmol (Copenhagen)
, vol.69
, Issue.6
, pp. 694-702
-
-
Rosenberg, T.1
Haim, M.2
Piczenik, Y.3
Simonsen, S.E.4
-
4
-
-
0033762779
-
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
-
1:CAS:528:DC%2BD3cXotVWhsbw%3D 11062472
-
CM Pusch C Zeitz O Brandau K Pesch H Achatz S Feil C Scharfe J Maurer FK Jacobi A Pinckers S Andreasson A Hardcastle B Wissinger W Berger A Meindl 2000 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 26 3 324-327 1:CAS:528:DC%2BD3cXotVWhsbw%3D 11062472
-
(2000)
Nat Genet
, vol.26
, Issue.3
, pp. 324-327
-
-
Pusch, C.M.1
Zeitz, C.2
Brandau, O.3
Pesch, K.4
Achatz, H.5
Feil, S.6
Scharfe, C.7
Maurer, J.8
Jacobi, F.K.9
Pinckers, A.10
Andreasson, S.11
Hardcastle, A.12
Wissinger, B.13
Berger, W.14
Meindl, A.15
-
5
-
-
0033757466
-
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
-
10.1038/81619 1:CAS:528:DC%2BD3cXotVWhsb8%3D 11062471
-
NT Bech-Hansen MJ Naylor TA Maybaum RL Sparkes B Koop DG Birch AA Bergen CF Prinsen RC Polomeno A Gal AV Drack MA Musarella SG Jacobson RS Young RG Weleber 2000 Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness Nat Genet 26 3 319-323 10.1038/81619 1:CAS:528:DC%2BD3cXotVWhsb8%3D 11062471
-
(2000)
Nat Genet
, vol.26
, Issue.3
, pp. 319-323
-
-
Bech-Hansen, N.T.1
Naylor, M.J.2
Maybaum, T.A.3
Sparkes, R.L.4
Koop, B.5
Birch, D.G.6
Bergen, A.A.7
Prinsen, C.F.8
Polomeno, R.C.9
Gal, A.10
Drack, A.V.11
Musarella, M.A.12
Jacobson, S.G.13
Young, R.S.14
Weleber, R.G.15
-
6
-
-
0037404189
-
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness
-
10.1016/S0002-9394(02)02109-8 1:CAS:528:DC%2BD3sXjt1Knsbc%3D 12719097
-
FK Jacobi CP Hamel B Arnaud N Blin M Broghammer PC Jacobi E Apfelstedt-Sylla CM Pusch 2003 A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness Am J Ophthalmol 135 5 733-736 10.1016/S0002-9394(02)02109-8 1:CAS:528:DC%2BD3sXjt1Knsbc%3D 12719097
-
(2003)
Am J Ophthalmol
, vol.135
, Issue.5
, pp. 733-736
-
-
Jacobi, F.K.1
Hamel, C.P.2
Arnaud, B.3
Blin, N.4
Broghammer, M.5
Jacobi, P.C.6
Apfelstedt-Sylla, E.7
Pusch, C.M.8
-
7
-
-
0034629343
-
Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness
-
10.1074/jbc.275.10.6969 1:CAS:528:DC%2BD3cXhvVGktLo%3D 10702259
-
KG Muradov NO Artemyev 2000 Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness J Biol Chem 275 10 6969-6974 10.1074/jbc.275.10.6969 1:CAS:528:DC%2BD3cXhvVGktLo%3D 10702259
-
(2000)
J Biol Chem
, vol.275
, Issue.10
, pp. 6969-6974
-
-
Muradov, K.G.1
Artemyev, N.O.2
-
8
-
-
0037465707
-
Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit
-
10.1021/bi027095x 1:CAS:528:DC%2BD3sXht1Sgsbc%3D 12641462
-
KG Muradov AE Granovsky NO Artemyev 2003 Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit Biochemistry 42 11 3305-3310 10.1021/bi027095x 1:CAS:528:DC%2BD3sXht1Sgsbc%3D 12641462
-
(2003)
Biochemistry
, vol.42
, Issue.11
, pp. 3305-3310
-
-
Muradov, K.G.1
Granovsky, A.E.2
Artemyev, N.O.3
-
10
-
-
0035028285
-
Multifocal ERG findings in complete type congenital stationary night blindness
-
1:STN:280:DC%2BD3M3kvFOisQ%3D%3D 11328749
-
M Kondo Y Miyake N Kondo A Tanikawa S Suzuki M Horiguchi H Terasaki 2001 Multifocal ERG findings in complete type congenital stationary night blindness Invest Ophthalmol Vis Sci 42 6 1342-1348 1:STN:280:DC%2BD3M3kvFOisQ%3D%3D 11328749
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, Issue.6
, pp. 1342-1348
-
-
Kondo, M.1
Miyake, Y.2
Kondo, N.3
Tanikawa, A.4
Suzuki, S.5
Horiguchi, M.6
Terasaki, H.7
-
11
-
-
0036273213
-
Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type
-
12044753
-
H Langrova D Gamer C Friedburg D Besch E Zrenner E Apfelstedt-Sylla 2002 Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type Vision Res 42 11 1475-1483 12044753
-
(2002)
Vision Res
, vol.42
, Issue.11
, pp. 1475-1483
-
-
Langrova, H.1
Gamer, D.2
Friedburg, C.3
Besch, D.4
Zrenner, E.5
Apfelstedt-Sylla, E.6
-
12
-
-
0036242469
-
Retinal origins of the primate multifocal ERG: Implications for the human response
-
11980890
-
DC Hood LJ Frishman S Saszik S Viswanathan 2002 Retinal origins of the primate multifocal ERG: Implications for the human response Invest Ophthalmol Vis Sci 43 5 1673-1685 11980890
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, Issue.5
, pp. 1673-1685
-
-
Hood, D.C.1
Frishman, L.J.2
Saszik, S.3
Viswanathan, S.4
|