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Items: 1 to 20 of 234

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.

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
5.

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
6.

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
7.

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
8.

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
9.

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.

10.

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
11.

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
12.

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
13.

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
14.

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.

15.

Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.

Rosenfeld PJ, Hahn LB, Sandberg MA, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 1995 Oct;36(11):2186-92.

PMID:
7558711
16.

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A.

Genomics. 1991 Oct;11(2):468-70.

PMID:
1840561
17.

Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene.

Shiono T, Hotta Y, Noro M, Sakuma T, Tamai M, Hayakawa M, Hashimoto T, Fujiki K, Kanai A, Nakajima A.

Jpn J Ophthalmol. 1992;36(1):69-75.

PMID:
1635298
18.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A, Bhattacharya S.

Hum Mutat. 1993;2(4):249-55. Review.

PMID:
8401533
19.

Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.

Millán JM, Fuchs S, Paricio N, Wedemann H, Gal A, Nájera C, Prieto F.

Mol Cell Probes. 1995 Feb;9(1):67-9.

PMID:
7760863
20.

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).

Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.

Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2217-24.

PMID:
11527933
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