255 related articles for article (PubMed ID: 30360737)
1. Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
Wu Z; Zhong M; Li M; Huang H; Liao J; Lu A; Guo K; Ma N; Lin J; Duan J; Liu L; Xu F; Zhong Z; Chen J
Curr Mol Med; 2018; 18(5):287-294. PubMed ID: 30360737
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martínez-Gimeno M; Gamundi MJ; Hernan I; Maseras M; Millá E; Ayuso C; García-Sandoval B; Beneyto M; Vilela C; Baiget M; Antiñolo G; Carballo M
Invest Ophthalmol Vis Sci; 2003 May; 44(5):2171-7. PubMed ID: 12714658
[TBL] [Abstract][Full Text] [Related]
3. Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
Pan X; Chen X; Liu X; Gao X; Kang X; Xu Q; Chen X; Zhao K; Zhang X; Chu Q; Wang X; Zhao C
Mol Vis; 2014; 20():770-9. PubMed ID: 24940031
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel pathogenic missense mutation in
Bryant L; Lozynska O; Marsh A; Papp TE; van Gorder L; Serrano LW; Gai X; Maguire AM; Aleman TS; Bennett J
Br J Ophthalmol; 2019 Jun; 103(6):761-767. PubMed ID: 30030392
[TBL] [Abstract][Full Text] [Related]
5. Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.
Wang J; Xiao X; Li S; Jiang H; Sun W; Wang P; Zhang Q
Acta Ophthalmol; 2022 Nov; 100(7):e1412-e1425. PubMed ID: 35138024
[TBL] [Abstract][Full Text] [Related]
6. Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.
Escher P; Passarin O; Munier FL; Tran VH; Vaclavik V
Ophthalmic Genet; 2018; 39(1):80-86. PubMed ID: 29087248
[TBL] [Abstract][Full Text] [Related]
7. Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.
Cao L; Peng C; Yu J; Jiang W; Yang J
Mol Genet Genomic Med; 2020 Dec; 8(12):e1537. PubMed ID: 33085829
[TBL] [Abstract][Full Text] [Related]
8. Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.
Mordes D; Yuan L; Xu L; Kawada M; Molday RS; Wu JY
Neurobiol Dis; 2007 May; 26(2):291-300. PubMed ID: 17350276
[TBL] [Abstract][Full Text] [Related]
9. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C; Coppieters F; Roels D; De Jaegere S; Flipts H; De Zaeytijd J; Walraedt S; Claes C; Fransen E; Van Camp G; Depasse F; Casteels I; de Ravel T; Leroy BP; De Baere E
PLoS One; 2017; 12(1):e0170038. PubMed ID: 28076437
[TBL] [Abstract][Full Text] [Related]
10. Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Bowne SJ; Sullivan LS; Avery CE; Sasser EM; Roorda A; Duncan JL; Wheaton DH; Birch DG; Branham KE; Heckenlively JR; Sieving PA; Daiger SP
Mol Vis; 2013; 19():2407-17. PubMed ID: 24319334
[TBL] [Abstract][Full Text] [Related]
11. Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the
Ali-Nasser T; Zayit-Soudry S; Banin E; Sharon D; Ben-Yosef T
Mol Vis; 2022; 28():359-368. PubMed ID: 36338669
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.
Sato H; Wada Y; Itabashi T; Nakamura M; Kawamura M; Tamai M
Am J Ophthalmol; 2005 Sep; 140(3):537-40. PubMed ID: 16139010
[TBL] [Abstract][Full Text] [Related]
13. Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.
Wang L; Ribaudo M; Zhao K; Yu N; Chen Q; Sun Q; Wang L; Wang Q
Am J Med Genet A; 2003 Sep; 121A(3):235-9. PubMed ID: 12923864
[TBL] [Abstract][Full Text] [Related]
14. A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression.
Yang D; Yao Q; Li Y; Xu Y; Wang J; Zhao H; Liu F; Zhang Z; Liu Y; Bie X; Wang Y; Xu L; Luan Y; Yang S; Yang G; He Y
Ophthalmic Physiol Opt; 2020 May; 40(3):289-299. PubMed ID: 32031697
[TBL] [Abstract][Full Text] [Related]
15. A Combined
Wheway G; Nazlamova L; Meshad N; Hunt S; Jackson N; Churchill A
Front Genet; 2019; 10():248. PubMed ID: 30967900
[TBL] [Abstract][Full Text] [Related]
16. A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Liu T; Jin X; Zhang X; Yuan H; Cheng J; Lee J; Zhang B; Zhang M; Wu J; Wang L; Tian G; Wang W
PLoS One; 2012; 7(9):e45464. PubMed ID: 23029027
[TBL] [Abstract][Full Text] [Related]
17. Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.
Xu F; Sui R; Liang X; Li H; Jiang R; Dong F
Mol Vis; 2012; 18():3021-xxx. PubMed ID: 23288994
[TBL] [Abstract][Full Text] [Related]
18. Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Coussa RG; Chakarova C; Ajlan R; Taha M; Kavalec C; Gomolin J; Khan A; Lopez I; Ren H; Waseem N; Kamenarova K; Bhattacharya SS; Koenekoop RK
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8297-305. PubMed ID: 26720483
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
Villanueva A; Willer JR; Bryois J; Dermitzakis ET; Katsanis N; Davis EE
Invest Ophthalmol Vis Sci; 2014 Apr; 55(4):2121-9. PubMed ID: 24595387
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
