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Journal Abstract Search

174 related items for PubMed ID: 10612508

  • 1.
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  • 2. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
    Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR.
    Arch Ophthalmol; 1999 Apr; 117(4):504-10. PubMed ID: 10206579
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  • 4. Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
    Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2229-36. PubMed ID: 11527935
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  • 5. Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study.
    Souied EH, Ducroq D, Gerber S, Ghazi I, Rozet JM, Perrault I, Munnich A, Dufier JL, Coscas G, Soubrane G, Kaplan J.
    Am J Ophthalmol; 1999 Aug; 128(2):173-8. PubMed ID: 10458172
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  • 6. A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
    Souied EH, Ducroq D, Rozet JM, Gerber S, Perrault I, Sterkers M, Benhamou N, Munnich A, Coscas G, Soubrane G, Kaplan J.
    Invest Ophthalmol Vis Sci; 1999 Oct; 40(11):2740-4. PubMed ID: 10509673
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  • 7. Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.
    Fumagalli A, Ferrari M, Soriani N, Gessi A, Foglieni B, Martina E, Manitto MP, Brancato R, Dean M, Allikmets R, Cremonesi L.
    Hum Genet; 2001 Sep; 109(3):326-38. PubMed ID: 11702214
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  • 8. ABCR gene analysis in familial exudative age-related macular degeneration.
    Souied EH, Ducroq D, Rozet JM, Gerber S, Perrault I, Munnich A, Coscas G, Soubrane G, Kaplan J.
    Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):244-7. PubMed ID: 10634626
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  • 9. Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
    Bernstein PS, Leppert M, Singh N, Dean M, Lewis RA, Lupski JR, Allikmets R, Seddon JM.
    Invest Ophthalmol Vis Sci; 2002 Feb; 43(2):466-73. PubMed ID: 11818392
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  • 10. Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
    Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR.
    Invest Ophthalmol Vis Sci; 2001 Nov; 42(12):2757-61. PubMed ID: 11687513
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  • 11. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
    Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR.
    Hum Mol Genet; 2001 Nov 01; 10(23):2671-8. PubMed ID: 11726554
    [Abstract] [Full Text] [Related]

  • 12. Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.
    De La Paz MA, Guy VK, Abou-Donia S, Heinis R, Bracken B, Vance JM, Gilbert JR, Gass JD, Haines JL, Pericak-Vance MA.
    Ophthalmology; 1999 Aug 01; 106(8):1531-6. PubMed ID: 10442900
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  • 13. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
    Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR.
    Nat Genet; 1997 Mar 01; 15(3):236-46. PubMed ID: 9054934
    [Abstract] [Full Text] [Related]

  • 14. ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.
    Fukui T, Yamamoto S, Nakano K, Tsujikawa M, Morimura H, Nishida K, Ohguro N, Fujikado T, Irifune M, Kuniyoshi K, Okada AA, Hirakata A, Miyake Y, Tano Y.
    Invest Ophthalmol Vis Sci; 2002 Sep 01; 43(9):2819-24. PubMed ID: 12202497
    [Abstract] [Full Text] [Related]

  • 15. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
    Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, Leppert M, Lupski JR.
    Vision Res; 1999 Jul 01; 39(15):2537-44. PubMed ID: 10396622
    [Abstract] [Full Text] [Related]

  • 16. Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease.
    Kniazeva MF, Chiang MF, Cutting GR, Zack DJ, Han M, Zhang K.
    Ophthalmic Genet; 1999 Jun 01; 20(2):71-81. PubMed ID: 10420191
    [Abstract] [Full Text] [Related]

  • 17. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
    Rozet JM, Gerber S, Souied E, Perrault I, Châtelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J.
    Eur J Hum Genet; 1998 Jun 01; 6(3):291-5. PubMed ID: 9781034
    [Abstract] [Full Text] [Related]

  • 18. Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.
    Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Rinaldi E, Allikmets R.
    Ophthalmic Res; 2004 Jun 01; 36(2):82-8. PubMed ID: 15017103
    [Abstract] [Full Text] [Related]

  • 19. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
    Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB.
    Hum Mol Genet; 1998 Mar 01; 7(3):355-62. PubMed ID: 9466990
    [Abstract] [Full Text] [Related]

  • 20. Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
    Rozet JM, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, Cabot A, Dufier JL, Munnich A, Kaplan J.
    J Med Genet; 1999 Jun 01; 36(6):447-51. PubMed ID: 10874631
    [Abstract] [Full Text] [Related]

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