167 related articles for article (PubMed ID: 24319334)
1. 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]
2. 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]
3. Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
Zhang X; Lai TY; Chiang SW; Tam PO; Liu DT; Chan CK; Pang CP; Zhao C; Chen LJ
Eye (Lond); 2013 Oct; 27(10):1204-13. PubMed ID: 23887765
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P; McGee TL; Capelli LP; Harper S; Berson EL; Rivolta C
Hum Mutat; 2011 Jun; 32(6):E2246-58. PubMed ID: 21618346
[TBL] [Abstract][Full Text] [Related]
6. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.
Zhao C; Bellur DL; Lu S; Zhao F; Grassi MA; Bowne SJ; Sullivan LS; Daiger SP; Chen LJ; Pang CP; Zhao K; Staley JP; Larsson C
Am J Hum Genet; 2009 Nov; 85(5):617-27. PubMed ID: 19878916
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Gerth-Kahlert C; Koller S; Hanson JVM; Baehr L; Tiwari A; Kivrak-Pfiffner F; Bahr A; Berger W
Invest Ophthalmol Vis Sci; 2019 Jul; 60(8):2822-2835. PubMed ID: 31260034
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].
Chen X; Gao X; Zhao KX; Pan XY; Zhang XM; Wang XY; Yuan ST; Liu QH; Zhao C
Zhonghua Yan Ke Za Zhi; 2013 Dec; 49(12):1104-10. PubMed ID: 24499697
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
Waseem NH; Vaclavik V; Webster A; Jenkins SA; Bird AC; Bhattacharya SS
Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1330-4. PubMed ID: 17325180
[TBL] [Abstract][Full Text] [Related]
15. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
Sullivan LS; Bowne SJ; Seaman CR; Blanton SH; Lewis RA; Heckenlively JR; Birch DG; Hughbanks-Wheaton D; Daiger SP
Invest Ophthalmol Vis Sci; 2006 Oct; 47(10):4579-88. PubMed ID: 17003455
[TBL] [Abstract][Full Text] [Related]
16. A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.
Mylvaganam GH; McGee TL; Berson EL; Dryja TP
Mol Vis; 2006 Dec; 12():1496-8. PubMed ID: 17167406
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS; Bowne SJ; Birch DG; Hughbanks-Wheaton D; Heckenlively JR; Lewis RA; Garcia CA; Ruiz RS; Blanton SH; Northrup H; Gire AI; Seaman R; Duzkale H; Spellicy CJ; Zhu J; Shankar SP; Daiger SP
Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3052-64. PubMed ID: 16799052
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]