173 related articles for article (PubMed ID: 19933183)
1. Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Yang Y; Zhang X; Chen LJ; Chiang SW; Tam PO; Lai TY; Chan CK; Wang N; Lam DS; Pang CP
Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2229-35. PubMed ID: 19933183
[TBL] [Abstract][Full Text] [Related]
2. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
Chen LJ; Lai TY; Tam PO; Chiang SW; Zhang X; Lam S; Lai RY; Lam DS; Pang CP
Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2236-42. PubMed ID: 19933189
[TBL] [Abstract][Full Text] [Related]
3. Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Gao M; Zhang S; Liu C; Qin Y; Archacki S; Jin L; Wang Y; Liu F; Chen J; Liu Y; Wang J; Huang M; Liao S; Tang Z; Guo AY; Jiang F; Liu M
Mol Vis; 2016; 22():234-42. PubMed ID: 27081294
[TBL] [Abstract][Full Text] [Related]
4. Differential pattern of RP1 mutations in retinitis pigmentosa.
Zhang X; Chen LJ; Law JP; Lai TY; Chiang SW; Tam PO; Chu KY; Wang N; Zhang M; Pang CP
Mol Vis; 2010 Jul; 16():1353-60. PubMed ID: 20664799
[TBL] [Abstract][Full Text] [Related]
5. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
Kannabiran C; Singh H; Sahini N; Jalali S; Mohan G
Mol Vis; 2012; 18():1165-74. PubMed ID: 22605927
[TBL] [Abstract][Full Text] [Related]
6. Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.
Lim KP; Yip SP; Cheung SC; Leung KW; Lam ST; To CH
Arch Ophthalmol; 2009 Jun; 127(6):784-90. PubMed ID: 19506198
[TBL] [Abstract][Full Text] [Related]
7. [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].
Wang DY; Fan BJ; Chan WM; Tam OS; Chiang WY; Lam SC; Pang CP
Zhonghua Yi Xue Za Zhi; 2005 Jun; 85(23):1613-7. PubMed ID: 16185528
[TBL] [Abstract][Full Text] [Related]
8. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet DF; Escher P
Hum Mutat; 2009 Nov; 30(11):1475-85. PubMed ID: 19718767
[TBL] [Abstract][Full Text] [Related]
9. Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3.
Diakatou M; Dubois G; Erkilic N; Sanjurjo-Soriano C; Meunier I; Kalatzis V
Int J Mol Sci; 2021 Mar; 22(5):. PubMed ID: 33807610
[TBL] [Abstract][Full Text] [Related]
10. RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.
Baum L; Chan WM; Yeung KY; Lam DS; Kwok AK; Pang CP
Hum Mutat; 2001 May; 17(5):436. PubMed ID: 11317367
[TBL] [Abstract][Full Text] [Related]
11. Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing
Naessens S; Ruysschaert L; Lefever S; Coppieters F; De Baere E
Genes (Basel); 2019 May; 10(5):. PubMed ID: 31083481
[TBL] [Abstract][Full Text] [Related]
12. Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Wright AF; Reddick AC; Schwartz SB; Ferguson JS; Aleman TS; Kellner U; Jurklies B; Schuster A; Zrenner E; Wissinger B; Lennon A; Shu X; Cideciyan AV; Stone EM; Jacobson SG; Swaroop A
Hum Mutat; 2004 Nov; 24(5):439. PubMed ID: 15459973
[TBL] [Abstract][Full Text] [Related]
13. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
Siemiatkowska AM; Arimadyo K; Moruz LM; Astuti GD; de Castro-Miro M; Zonneveld MN; Strom TM; de Wijs IJ; Hoefsloot LH; Faradz SM; Cremers FP; den Hollander AI; Collin RW
Mol Vis; 2011; 17():3013-24. PubMed ID: 22128245
[TBL] [Abstract][Full Text] [Related]
14. Novel homozygous mutations in the transcription factor
El-Asrag ME; Corton M; McKibbin M; Avila-Fernandez A; Mohamed MD; Blanco-Kelly F; Toomes C; Inglehearn CF; Ayuso C; Ali M
Mol Vis; 2022; 28():48-56. PubMed ID: 35693422
[TBL] [Abstract][Full Text] [Related]
15. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Kanda A; Friedman JS; Nishiguchi KM; Swaroop A
Hum Mutat; 2007 Jun; 28(6):589-98. PubMed ID: 17335001
[TBL] [Abstract][Full Text] [Related]
16. Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
Hernan I; Gamundi MJ; Borràs E; Maseras M; García-Sandoval B; Blanco-Kelly F; Ayuso C; Carballo M
Clin Genet; 2012 Nov; 82(5):446-52. PubMed ID: 21981118
[TBL] [Abstract][Full Text] [Related]
17. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
Escher P; Gouras P; Roduit R; Tiab L; Bolay S; Delarive T; Chen S; Tsai CC; Hayashi M; Zernant J; Merriam JE; Mermod N; Allikmets R; Munier FL; Schorderet DF
Hum Mutat; 2009 Mar; 30(3):342-51. PubMed ID: 19006237
[TBL] [Abstract][Full Text] [Related]
18. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
Martinez-Gimeno M; Maseras M; Baiget M; Beneito M; Antiñolo G; Ayuso C; Carballo M
Hum Mutat; 2001 Jun; 17(6):520. PubMed ID: 11385710
[TBL] [Abstract][Full Text] [Related]
19. Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
DeAngelis MM; Grimsby JL; Sandberg MA; Berson EL; Dryja TP
Arch Ophthalmol; 2002 Mar; 120(3):369-75. PubMed ID: 11879142
[TBL] [Abstract][Full Text] [Related]
20. [Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].
Zhang X; Yeung KY; Pang CP; Fu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun; 19(3):194-7. PubMed ID: 12048676
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
