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Journal Abstract Search

523 related items for PubMed ID: 17325180

  • 1. 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
    [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
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 58(2):1045-1053. PubMed ID: 28192796
    [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 01; 47(10):4579-88. PubMed ID: 17003455
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 140(3):537-40. PubMed ID: 16139010
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  • 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 Sep 01; 51(1):45-8. PubMed ID: 17295140
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 36(1):64-9. PubMed ID: 23834559
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 56(13):8297-305. PubMed ID: 26720483
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 121A(3):235-9. PubMed ID: 12923864
    [Abstract] [Full Text] [Related]

  • 10. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.
    Invest Ophthalmol Vis Sci; 2011 Dec 02; 52(13):9304-9. PubMed ID: 22039234
    [Abstract] [Full Text] [Related]

  • 11. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
    Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J.
    Mol Vis; 2004 May 20; 10():361-5. PubMed ID: 15162096
    [Abstract] [Full Text] [Related]

  • 12. 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 May 20; 18():3021-xxx. PubMed ID: 23288994
    [Abstract] [Full Text] [Related]

  • 13. 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 07; 55(4):2121-9. PubMed ID: 24595387
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  • 15. 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 07; 47(7):3052-64. PubMed ID: 16799052
    [Abstract] [Full Text] [Related]

  • 16. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
    Audo I, Bujakowska K, Mohand-Saïd S, Lancelot ME, Moskova-Doumanova V, Waseem NH, Antonio A, Sahel JA, Bhattacharya SS, Zeitz C.
    BMC Med Genet; 2010 Oct 12; 11():145. PubMed ID: 20939871
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