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Journal Abstract Search


203 related items for PubMed ID: 2328435

  • 21. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.
    Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT.
    Am J Hum Genet; 1998 Apr; 62(4):865-75. PubMed ID: 9529339
    [Abstract] [Full Text] [Related]

  • 22. A Japanese pedigree of autosomal dominant congenital stationary night blindness with variable expressivity.
    Hayakawa M, Imai Y, Wakita M, Kato K, Yanashima K, Miyake Y, Kanai A.
    Ophthalmic Paediatr Genet; 1992 Dec; 13(4):211-7. PubMed ID: 1488221
    [Abstract] [Full Text] [Related]

  • 23. Linkage analysis in X-linked congenital stationary night blindness.
    Aldred MA, Dry KL, Sharp DM, Van Dorp DB, Brown J, Hardwick LJ, Lester DH, Pryde FE, Teague PW, Jay M.
    Genomics; 1992 Sep; 14(1):99-104. PubMed ID: 1427834
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  • 24. Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
    Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV.
    JAMA Ophthalmol; 2018 Apr 01; 136(4):389-398. PubMed ID: 29522070
    [Abstract] [Full Text] [Related]

  • 25. Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
    Hawksworth NR, Headland S, Good P, Thomas NS, Clarke A.
    Br J Ophthalmol; 1995 May 01; 79(5):424-30. PubMed ID: 7612552
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  • 26. Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
    Glass IA, Good P, Coleman MP, Fullwood P, Giles MG, Lindsay S, Nemeth AH, Davies KE, Willshaw HA, Fielder A.
    J Med Genet; 1993 Dec 01; 30(12):1044-50. PubMed ID: 7907666
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  • 28. The Eisdell pedigree. Congenital stationary night-blindness with myopia.
    Jay M.
    Trans Ophthalmol Soc U K (1962); 1983 Dec 01; 103 ( Pt 2)():221-6. PubMed ID: 6364465
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  • 29. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.
    Musarella MA, Weleber RG, Murphey WH, Young RS, Anson-Cartwright L, Mets M, Kraft SP, Polemeno R, Litt M, Worton RG.
    Genomics; 1989 Nov 01; 5(4):727-37. PubMed ID: 2574143
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  • 31. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
    Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W.
    Invest Ophthalmol Vis Sci; 2005 Nov 01; 46(11):4328-35. PubMed ID: 16249515
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  • 33. Congenital stationary night blindness with negative electroretinogram. A new classification.
    Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T.
    Arch Ophthalmol; 1986 Jul 01; 104(7):1013-20. PubMed ID: 3488053
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  • 35. Congenital stationary night blindness.
    Haim M.
    Acta Ophthalmol (Copenh); 1986 Apr 01; 64(2):192-8. PubMed ID: 3487908
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  • 38. [Family investigation and clinical genetic analysis of a large pedigree with congenital stationary night blindness].
    Fei YJ.
    Zhonghua Yan Ke Za Zhi; 1992 May 01; 28(3):162-5. PubMed ID: 1286605
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  • 39. A dominant form of congenital stationary night blindness (adCSNB) in a large Chinese family.
    Liu X, Zhuang S, Hu S, Zhang F, Lin B, Li X, Xu D, Chen SH.
    Ann Hum Genet; 2005 May 01; 69(Pt 3):315-21. PubMed ID: 15845035
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  • 40. Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
    Jensen H, Warburg M, Sjö O, Schwartz M.
    J Med Genet; 1995 May 01; 32(5):348-51. PubMed ID: 7616540
    [Abstract] [Full Text] [Related]


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