181 related articles for article (PubMed ID: 26794436)
1. Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.
Yu X; Shi W; Cheng L; Wang Y; Chen D; Hu X; Xu J; Xu L; Wu Y; Qu J; Gu F
Sci Rep; 2016 Jan; 6():19759. PubMed ID: 26794436
[TBL] [Abstract][Full Text] [Related]
2. Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
Beryozkin A; Levy G; Blumenfeld A; Meyer S; Namburi P; Morad Y; Gradstein L; Swaroop A; Banin E; Sharon D
Invest Ophthalmol Vis Sci; 2016 Mar; 57(3):940-7. PubMed ID: 26962691
[TBL] [Abstract][Full Text] [Related]
3. [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]
4. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
Abdulridha-Aboud W; Kjellström U; Andréasson S; Ponjavic V
Mol Vis; 2016; 22():362-73. PubMed ID: 27212874
[TBL] [Abstract][Full Text] [Related]
5. Heterozygous
Wu Y; Guo Y; Yi J; Xu H; Yuan L; Yang Z; Deng H
Biosci Rep; 2019 Jul; 39(7):. PubMed ID: 31239368
[TBL] [Abstract][Full Text] [Related]
6. A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa.
Rodriguez JA; Herrera CA; Birch DG; Daiger SP
Hum Mutat; 1993; 2(3):205-13. PubMed ID: 8364589
[TBL] [Abstract][Full Text] [Related]
7. [Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].
Teng Y; Tian H; Wang H; Hu X; Chen Y; Yang Z; Wang W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):164-6. PubMed ID: 12673590
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
Rosas DJ; Roman AJ; Weissbrod P; Macke JP; Nathans J
Invest Ophthalmol Vis Sci; 1994 Jul; 35(8):3134-44. PubMed ID: 8045708
[TBL] [Abstract][Full Text] [Related]
10. [A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa].
Wang S; Zhang R; Shi Z; Ren L; Ren J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):192-4. PubMed ID: 15793783
[TBL] [Abstract][Full Text] [Related]
11. Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
Schuster A; Weisschuh N; Jägle H; Besch D; Janecke AR; Zierler H; Tippmann S; Zrenner E; Wissinger B
Br J Ophthalmol; 2005 Oct; 89(10):1258-64. PubMed ID: 16170112
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
Sultan N; Ali I; Bukhari SA; Baig SM; Asif M; Qasim M; Naseer MI; Rasool M
Genes Genomics; 2018 May; 40(5):553-559. PubMed ID: 29892959
[TBL] [Abstract][Full Text] [Related]
13. New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
de Sousa Dias M; Hernan I; Delás B; Pascual B; Borràs E; Gamundi MJ; Mañé B; Fernández-San José P; Ayuso C; Carballo M
Mol Vis; 2015; 21():857-70. PubMed ID: 26321861
[TBL] [Abstract][Full Text] [Related]
14. Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa.
Guo H; Qin Y; Meng Q; Zhang H; Jin H; Chen Y
J Hum Genet; 2010 Sep; 55(9):571-6. PubMed ID: 20555336
[TBL] [Abstract][Full Text] [Related]
15. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.
Richards JE; Scott KM; Sieving PA
Ophthalmology; 1995 Apr; 102(4):669-77. PubMed ID: 7724183
[TBL] [Abstract][Full Text] [Related]
16. Clinical features of autosomal dominant retinitis pigmentosa associated with a Rhodopsin mutation.
Chen H; Chen Y; Horn R; Yang Z; Wang C; Turner MJ; Zhang K
Ann Acad Med Singap; 2006 Jun; 35(6):411-5. PubMed ID: 16865192
[TBL] [Abstract][Full Text] [Related]
17. The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Reiff C; Owczarek-Lipska M; Spital G; Röger C; Hinz H; Jüschke C; Thiele H; Altmüller J; Nürnberg P; Da Costa R; Neidhardt J
Sci Rep; 2016 Nov; 6():36208. PubMed ID: 27812022
[TBL] [Abstract][Full Text] [Related]
18. Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.
Bareil C; Hamel C; Pallarès-Ruiz N; Arnaud B; Demaille J; Claustres M
Ophthalmic Genet; 1999 Sep; 20(3):173-82. PubMed ID: 10521250
[TBL] [Abstract][Full Text] [Related]
19. Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
Daiger SP; Sullivan LS; Bowne SJ; Koboldt DC; Blanton SH; Wheaton DK; Avery CE; Cadena ED; Koenekoop RK; Fulton RS; Wilson RK; Weinstock GM; Lewis RA; Birch DG
Adv Exp Med Biol; 2016; 854():193-200. PubMed ID: 26427411
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 1303237
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]