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Journal Abstract Search

288 related items for PubMed ID: 22052604

  • 1. 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]

  • 2. Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
    Gamundi MJ, Hernan I, Martínez-Gimeno M, Maseras M, García-Sandoval B, Ayuso C, Antiñolo G, Baiget M, Carballo M.
    BMC Med Genet; 2006 Apr 05; 7():35. PubMed ID: 16597330
    [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 05; 42(10):2217-24. PubMed ID: 11527933
    [Abstract] [Full Text] [Related]

  • 4. 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 05; 51(4):2236-42. PubMed ID: 19933189
    [Abstract] [Full Text] [Related]

  • 5. 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 05; 41(7):1898-908. PubMed ID: 10845615
    [Abstract] [Full Text] [Related]

  • 6. 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 05; 31(5):E1406-35. PubMed ID: 20333770
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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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  • 10. 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
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  • 12. 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 01; 46(7):2264-70. PubMed ID: 15980210
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ.
    Ophthalmology; 2010 Oct 01; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
    Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.
    Hum Mutat; 2013 Mar 01; 34(3):506-14. PubMed ID: 23281133
    [Abstract] [Full Text] [Related]

  • 17. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2005 May 01; 46(5):1735-41. PubMed ID: 15851576
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
    Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS.
    Hum Mol Genet; 1999 Oct 01; 8(11):2121-8. PubMed ID: 10484783
    [Abstract] [Full Text] [Related]

  • 20. Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
    Schuster A, Weisschuh N, Jägle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B.
    Br J Ophthalmol; 2005 Oct 01; 89(10):1258-64. PubMed ID: 16170112
    [Abstract] [Full Text] [Related]

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