BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 36317469)

  • 1. Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus.
    Chen Z; Chen J; Gao M; Liu Y; Wu Y; Wang Y; Gong Y; Yu S; Liu W; Wan X; Sun X
    Hum Mutat; 2022 Dec; 43(12):2279-2294. PubMed ID: 36317469
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 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 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]  

  • 14. 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]  

  • 15. Genetic Modifiers of Non-Penetrance and RNA Expression Levels in
    Lisbjerg K; Grønskov K; Bertelsen M; Møller LB; Kessel L
    Genes (Basel); 2023 Feb; 14(2):. PubMed ID: 36833363
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.
    Abu-Safieh L; Vithana EN; Mantel I; Holder GE; Pelosini L; Bird AC; Bhattacharya SS
    Mol Vis; 2006 Apr; 12():384-8. PubMed ID: 16636657
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa.
    Xie D; Peng K; Yi Q; Liu W; Yang Y; Sun K; Zhu X; Lu F
    Genet Test Mol Biomarkers; 2018 Jul; 22(7):425-432. PubMed ID: 29957067
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.