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Items: 1 to 20 of 229

1.

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL.

N Engl J Med. 1990 Nov 8;323(19):1302-7.

2.

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL.

Nature. 1990 Jan 25;343(6256):364-6.

PMID:
2137202
3.

Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.

Budu, Matsumoto M, Hayasaka S, Yamada T, Hayasaka Y.

Jpn J Ophthalmol. 2000 Nov-Dec;44(6):610-4.

PMID:
11094174
4.

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL.

Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):9370-4.

5.
6.

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1630-5.

PMID:
16565402
7.

Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.

Keen TJ, Inglehearn CF, Lester DH, Bashir R, Jay M, Bird AC, Jay B, Bhattacharya SS.

Genomics. 1991 Sep;11(1):199-205.

PMID:
1765377
8.

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.

Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1992 Jun;1(3):209-13.

PMID:
1303237
9.

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.

Bessant DA, Khaliq S, Hameed A, Anwar K, Payne AM, Mehdi SQ, Bhattacharya SS.

Hum Mutat. 1999;13(1):83.

PMID:
10189219
10.

Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient.

Hayakawa M, Hotta Y, Imai Y, Fujiki K, Nakamura A, Yanashima K, Kanai A.

Am J Ophthalmol. 1993 Feb 15;115(2):168-73.

PMID:
7679248
11.

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.

Zhang XL, Liu M, Meng XH, Fu WL, Yin ZQ, Zhang X, Huang JF.

Chin Med Sci J. 2005 Mar;20(1):30-4.

PMID:
15844309
12.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J.

Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481-5.

13.

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).

Fujiki K, Hotta Y, Hayakawa M, Sakuma H, Shiono T, Noro M, Sakuma T, Tamai M, Hikiji K, Kawaguchi R, et al.

Jpn J Hum Genet. 1992 Jun;37(2):125-32.

PMID:
1391967
14.

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

Inglehearn CF, Keen TJ, Bashir R, Jay M, Fitzke F, Bird AC, Crombie A, Bhattacharya S.

Hum Mol Genet. 1992 Apr;1(1):41-5.

PMID:
1301135
15.

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.

Heckenlively JR, Rodriguez JA, Daiger SP.

Arch Ophthalmol. 1991 Jan;109(1):84-91.

PMID:
1987955
16.

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.

Owens SL, Fitzke FW, Inglehearn CF, Jay M, Keen TJ, Arden GB, Bhattacharya SS, Bird AC.

Br J Ophthalmol. 1994 May;78(5):353-8.

17.

Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Zhao K, Xiong S, Wang L, Wang L, Cui Y, Wang Q.

Ophthalmic Genet. 2001 Sep;22(3):155-62.

PMID:
11559857
18.
19.

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.

Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP.

Am J Ophthalmol. 1991 May 15;111(5):614-23.

PMID:
2021172
20.

Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family.

Ponjavic V, Abrahamson M, Andréasson S, Ehinger B, Fex G.

Acta Ophthalmol Scand. 1997 Apr;75(2):218-23.

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