211 related articles for article (PubMed ID: 28192796)
1. Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Martin-Merida I; Sanchez-Alcudia R; Fernandez-San Jose P; Blanco-Kelly F; Perez-Carro R; Rodriguez-Jacy da Silva L; Almoguera B; Garcia-Sandoval B; Lopez-Molina MI; Avila-Fernandez A; Carballo M; Corton M; Ayuso C
Invest Ophthalmol Vis Sci; 2017 Feb; 58(2):1045-1053. PubMed ID: 28192796
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications.
Taira K; Nakazawa M; Sato M
Jpn J Ophthalmol; 2007; 51(1):45-8. PubMed ID: 17295140
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I; Aguilera-Garcia D; Fernandez-San Jose P; Blanco-Kelly F; Zurita O; Almoguera B; Garcia-Sandoval B; Avila-Fernandez A; Arteche A; Minguez P; Carballo M; Corton M; Ayuso C
Invest Ophthalmol Vis Sci; 2018 May; 59(6):2345-2354. PubMed ID: 29847639
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
Vithana EN; Abu-Safieh L; Pelosini L; Winchester E; Hornan D; Bird AC; Hunt DM; Bustin SA; Bhattacharya SS
Invest Ophthalmol Vis Sci; 2003 Oct; 44(10):4204-9. PubMed ID: 14507862
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. Expression of PRPF31 and TFPT: regulation in health and retinal disease.
Rose AM; Shah AZ; Waseem NH; Chakarova CF; Alfano G; Coussa RG; Ajlan R; Koenekoop RK; Bhattacharya SS
Hum Mol Genet; 2012 Sep; 21(18):4126-37. PubMed ID: 22723017
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
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. Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
Köhn L; Bowne SJ; S Sullivan L; Daiger SP; Burstedt MS; Kadzhaev K; Sandgren O; Golovleva I
Eur J Hum Genet; 2009 May; 17(5):651-5. PubMed ID: 19050727
[TBL] [Abstract][Full Text] [Related]
20. Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
Rose AM; Shah AZ; Venturini G; Rivolta C; Rose GE; Bhattacharya SS
Ann Hum Genet; 2014 Jan; 78(1):62-71. PubMed ID: 24116917
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]