203 related articles for article (PubMed ID: 1302614)
1. Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
Farrar GJ; Findlay JB; Kumar-Singh R; Kenna P; Humphries MM; Sharpe E; Humphries P
Hum Mol Genet; 1992 Dec; 1(9):769-71. PubMed ID: 1302614
[No Abstract] [Full Text] [Related]
2. 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; 88(20):9370-4. PubMed ID: 1833777
[TBL] [Abstract][Full Text] [Related]
3. 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; 343(6256):364-6. PubMed ID: 2137202
[TBL] [Abstract][Full Text] [Related]
4. Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
Lester DH; Inglehearn CF; Bashir R; Ackford H; Esakowitz L; Jay M; Bird AC; Wright AF; Papiha SS; Bhattacharya SS
Am J Hum Genet; 1990 Sep; 47(3):536-41. PubMed ID: 2393026
[TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.
Kranich H; Bartkowski S; Denton MJ; Krey S; Dickinson P; Duvigneau C; Gal A
Hum Mol Genet; 1993 Jun; 2(6):813-4. PubMed ID: 8353500
[No Abstract] [Full Text] [Related]
6. Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.
Farrar GJ; Kenna P; Redmond R; McWilliam P; Bradley DG; Humphries MM; Sharp EM; Inglehearn CF; Bashir R; Jay M
Am J Hum Genet; 1990 Dec; 47(6):941-5. PubMed ID: 2239971
[TBL] [Abstract][Full Text] [Related]
7. A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.
al-Maghtheh M; Kim RY; Hardcastle A; Inglehearn C; Bhattacharya SS
Hum Mol Genet; 1994 Jan; 3(1):205-6. PubMed ID: 8162031
[No Abstract] [Full Text] [Related]
8. A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family.
Reig C; Llecha N; Antich J; Gean E; Tejada I; Molina M; Reventós J; Carballo M
Hum Mol Genet; 1994 Jan; 3(1):195-6. PubMed ID: 8162026
[No Abstract] [Full Text] [Related]
9. Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.
Farrar GJ; McWilliam P; Bradley DG; Kenna P; Lawler M; Sharp EM; Humphries MM; Eiberg H; Conneally PM; Trofatter JA
Genomics; 1990 Sep; 8(1):35-40. PubMed ID: 2081598
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 1301135
[TBL] [Abstract][Full Text] [Related]
11. Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa.
Horn M; Humphries P; Kunisch M; Marchese C; Apfelstedt-Sylla E; Fugi L; Zrenner E; Kenna P; Gal A; Farrar J
Hum Genet; 1992 Nov; 90(3):255-7. PubMed ID: 1487240
[TBL] [Abstract][Full Text] [Related]
12. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
Farrar GJ; Kenna P; Jordan SA; Kumar-Singh R; Humphries MM; Sharp EM; Sheils D; Humphries P
Genomics; 1992 Nov; 14(3):805-7. PubMed ID: 1427912
[TBL] [Abstract][Full Text] [Related]
13. [Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa].
Reig C; Antich J; Gean E; Dante Heredia C; Valverde D; Baiget M; Carballo M
Med Clin (Barc); 1996 Feb; 106(6):219-21. PubMed ID: 8667664
[TBL] [Abstract][Full Text] [Related]
14. Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.
Macke JP; Hennessey JC; Nathans J
Hum Mol Genet; 1995 Apr; 4(4):775-6. PubMed ID: 7633434
[No Abstract] [Full Text] [Related]
15. 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. PubMed ID: 16565402
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 7760863
[TBL] [Abstract][Full Text] [Related]
17. Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
Vaithinathan R; Berson EL; Dryja TP
Genomics; 1994 May; 21(2):461-3. PubMed ID: 8088850
[No Abstract] [Full Text] [Related]
18. Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.
Inglehearn CF; Lester DH; Bashir R; Atif U; Keen TJ; Sertedaki A; Lindsey J; Jay M; Bird AC; Farrar GJ
Am J Hum Genet; 1992 Mar; 50(3):590-7. PubMed ID: 1539595
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 8401533
[TBL] [Abstract][Full Text] [Related]
20. A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa.
Restagno G; Maghtheh M; Bhattacharya S; Ferrone M; Garnerone S; Samuelly R; Carbonara A
Hum Mol Genet; 1993 Feb; 2(2):207-8. PubMed ID: 8499910
[No Abstract] [Full Text] [Related]
[Next] [New Search]
