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379 related items for PubMed ID: 19933189

  • 1. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
    Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.
    Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2236-42. PubMed ID: 19933189
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
    [Abstract] [Full Text] [Related]

  • 3. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
    [Abstract] [Full Text] [Related]

  • 4. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
    Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antiñolo G, Ayuso C, Carballo M.
    Hum Mutat; 2001 Jun; 17(6):520. PubMed ID: 11385710
    [Abstract] [Full Text] [Related]

  • 5. [Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].
    Zhang X, Yeung KY, Pang CP, Fu W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun; 19(3):194-7. PubMed ID: 12048676
    [Abstract] [Full Text] [Related]

  • 6. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
    Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2012 Jan; 33(1):73-80. PubMed ID: 22052604
    [Abstract] [Full Text] [Related]

  • 7. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
    [Abstract] [Full Text] [Related]

  • 8. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
    Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 Jun 17; 41(7):1898-908. PubMed ID: 10845615
    [Abstract] [Full Text] [Related]

  • 9. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM.
    Invest Ophthalmol Vis Sci; 2019 Mar 01; 60(4):1192-1203. PubMed ID: 30913292
    [Abstract] [Full Text] [Related]

  • 10. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.
    Ophthalmology; 2010 Nov 01; 117(11):2169-77.e3. PubMed ID: 20591486
    [Abstract] [Full Text] [Related]

  • 11. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
    Kanda A, Friedman JS, Nishiguchi KM, Swaroop A.
    Hum Mutat; 2007 Jun 01; 28(6):589-98. PubMed ID: 17335001
    [Abstract] [Full Text] [Related]

  • 12. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, Sato H, Tanaka K, Ishibashi T, Tamai M.
    Am J Ophthalmol; 2004 Jun 01; 137(6):1137-9. PubMed ID: 15183808
    [Abstract] [Full Text] [Related]

  • 13. A novel missense RP1 mutation in retinitis pigmentosa.
    Chiang SW, Wang DY, Chan WM, Tam PO, Chong KK, Lam DS, Pang CP.
    Eye (Lond); 2006 May 01; 20(5):602-5. PubMed ID: 15933747
    [Abstract] [Full Text] [Related]

  • 14. Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
    Yang Y, Zhang X, Chen LJ, Chiang SW, Tam PO, Lai TY, Chan CK, Wang N, Lam DS, Pang CP.
    Invest Ophthalmol Vis Sci; 2010 Apr 01; 51(4):2229-35. PubMed ID: 19933183
    [Abstract] [Full Text] [Related]

  • 15. EYS is a major gene for rod-cone dystrophies in France.
    Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2010 May 01; 31(5):E1406-35. PubMed ID: 20333770
    [Abstract] [Full Text] [Related]

  • 16. RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.
    Al-Rashed M, Abu Safieh L, Alkuraya H, Aldahmesh MA, Alzahrani J, Diya M, Hashem M, Hardcastle AJ, Al-Hazzaa SA, Alkuraya FS.
    Br J Ophthalmol; 2012 Jul 01; 96(7):1018-22. PubMed ID: 22317909
    [Abstract] [Full Text] [Related]

  • 17. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
    Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Sep 01; 51(9):4387-94. PubMed ID: 20375346
    [Abstract] [Full Text] [Related]

  • 18. Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
    Hernan I, Gamundi MJ, Borràs E, Maseras M, García-Sandoval B, Blanco-Kelly F, Ayuso C, Carballo M.
    Clin Genet; 2012 Nov 01; 82(5):446-52. PubMed ID: 21981118
    [Abstract] [Full Text] [Related]

  • 19. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.
    Curr Eye Res; 2005 Dec 01; 30(12):1081-7. PubMed ID: 16354621
    [Abstract] [Full Text] [Related]

  • 20. RP1 protein truncating mutations predominate at the RP1 adRP locus.
    Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Dec 01; 41(13):4069-73. PubMed ID: 11095597
    [Abstract] [Full Text] [Related]

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