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Journal Abstract Search

112 related items for PubMed ID: 14517959

  • 21. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 23. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).
    Bakall B, Radu RA, Stanton JB, Burke JM, McKay BS, Wadelius C, Mullins RF, Stone EM, Travis GH, Marmorstein AD.
    Exp Eye Res; 2007 Jul; 85(1):34-43. PubMed ID: 17477921
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  • 26. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
    Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K.
    Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
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  • 30. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
    Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP.
    Hum Mutat; 2005 Mar; 25(3):248-58. PubMed ID: 15712225
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  • 31. Phenotype and genotype correlations in two best families.
    Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA.
    Ophthalmology; 2003 Sep; 110(9):1724-31. PubMed ID: 13129869
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  • 33. Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
    Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, Cremers FP, Klevering BJ, Hoyng CB.
    Retina; 2009 Jun; 29(6):835-47. PubMed ID: 19357557
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  • 35. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
    Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH.
    Hum Mol Genet; 1998 Sep; 7(9):1517-25. PubMed ID: 9700209
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  • 36. Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
    Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M.
    Ophthalmic Genet; 2002 Sep; 23(3):167-74. PubMed ID: 12324875
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  • 37. [VMD2 and its role in Best's disease and other retinopathies].
    Stöhr H, Milenkowic V, Weber BH.
    Ophthalmologe; 2005 Feb; 102(2):116-21. PubMed ID: 15627199
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  • 39. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.
    Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM.
    Invest Ophthalmol Vis Sci; 2007 Jul; 48(7):3372-80. PubMed ID: 17591911
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