152 related articles for article (PubMed ID: 22419850)
1. Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.
Maubaret C; Kosmaoglou M; Low S; Chakarova CF; Bidot S; Thauvin-Robinet C; Robson AG; Waseem N; Cheetham ME; Bhattacharya SS
Mol Vis; 2012; 18():581-7. PubMed ID: 22419850
[TBL] [Abstract][Full Text] [Related]
2. Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.
Pan Z; Lu T; Zhang X; Dai H; Yan W; Bai F; Li Y
Mol Vis; 2012; 18():3013-20. PubMed ID: 23288993
[TBL] [Abstract][Full Text] [Related]
3. Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa.
Wang Y; Chen X; Gao X; Zhao A; Zhao C; Chen X
BMC Ophthalmol; 2021 Oct; 21(1):371. PubMed ID: 34666717
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Audo I; Manes G; Mohand-Saïd S; Friedrich A; Lancelot ME; Antonio A; Moskova-Doumanova V; Poch O; Zanlonghi X; Hamel CP; Sahel JA; Bhattacharya SS; Zeitz C
Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3687-700. PubMed ID: 20164459
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 11559857
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Current therapeutic strategies for P23H RHO-linked RP.
Nguyen AT; Campbell M; Kiang AS; Humphries MM; Humphries P
Adv Exp Med Biol; 2014; 801():471-6. PubMed ID: 24664733
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.
Saini S; Robinson PN; Singh JR; Vanita V
Exp Eye Res; 2012 Nov; 104():82-8. PubMed ID: 23041261
[TBL] [Abstract][Full Text] [Related]
10. [A study on localization of an autosomal dominant retinitis pigmentosa gene].
Ma X; Wei R; Cai J; Zhu L
Zhonghua Yan Ke Za Zhi; 2002 Nov; 38(11):680-3. PubMed ID: 12487900
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
Yang Y; Tian D; Lee J; Zeng J; Zhang H; Chen S; Guo H; Xiong Z; Xia K; Hu Z; Luo J
Ophthalmic Genet; 2015 Mar; 36(1):64-9. PubMed ID: 23834559
[TBL] [Abstract][Full Text] [Related]
13. A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.
Kartasasmita A; Fujiki K; Iskandar E; Sovani I; Fujimaki T; Murakami A
Ophthalmic Genet; 2011 Mar; 32(1):57-63. PubMed ID: 21174529
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Gene mapping and mutation screening in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa.
Xiang F; Yan M; Song G; Zheng F
Genetika; 2012 Jan; 48(1):125-9. PubMed ID: 22567862
[TBL] [Abstract][Full Text] [Related]
16. [A novel rhodopsin E341ter mutation in patients with retinitis pigmentosa and corresponding clinical phenotype].
Xiong S; Zhao K; Wang L; Wang L; Cui Y; Chen W; Wang L; Wang Q
Zhonghua Yan Ke Za Zhi; 2002 Apr; 38(4):224-7. PubMed ID: 12133392
[TBL] [Abstract][Full Text] [Related]
17. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
Brzeziańska E; Zdzieszyńska M; Goś R; Lewiński A
Klin Oczna; 2004; 106(6):743-8. PubMed ID: 15787173
[TBL] [Abstract][Full Text] [Related]
18. Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.
Dong B; Chen J; Zhang X; Pan Z; Bai F; Li Y
Mol Vis; 2013; 19():2426-35. PubMed ID: 24319336
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
Inglehearn CF; Bashir R; Lester DH; Jay M; Bird AC; Bhattacharya SS
Am J Hum Genet; 1991 Jan; 48(1):26-30. PubMed ID: 1985460
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
