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133 related items for PubMed ID: 1427834

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  • 4. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.
    Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG.
    Hum Genet; 1998 Aug; 103(2):124-30. PubMed ID: 9760193
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  • 5. 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
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  • 6. Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.
    Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B.
    Int J Mol Med; 2001 Feb; 7(2):155-61. PubMed ID: 11172618
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  • 7. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).
    Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F.
    Hum Genet; 1995 Jan; 95(1):67-70. PubMed ID: 7814029
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  • 8. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM.
    Nat Genet; 1998 Jul; 19(3):264-7. PubMed ID: 9662400
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  • 9. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity.
    Bech-Hansen NT, Pearce WG.
    Am J Hum Genet; 1993 Jan; 52(1):71-7. PubMed ID: 8434607
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  • 10. A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome.
    Bech-Hansen NT, Field LL, Schramm AM, Reedyk M, Craig IW, Fraser NJ, Pearce WG.
    Hum Genet; 1990 Apr; 84(5):406-8. PubMed ID: 1969841
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  • 11. Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family.
    Rozzo C, Fossarello M, Galleri G, Miano MG, Ciccodicola A, Sole G, Pirastu M.
    Eur J Hum Genet; 1999 Jul; 7(5):574-8. PubMed ID: 10439964
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  • 12. Linkage analysis in a family with complete type congenital stationary night blindness with and without myopia.
    Dry KL, Van Dorp DB, Aldred MA, Brown J, Hardwick LJ, Wright AF.
    Clin Genet; 1993 May; 43(5):250-4. PubMed ID: 8375106
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  • 13. GNAT1 associated with autosomal recessive congenital stationary night blindness.
    Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA.
    Invest Ophthalmol Vis Sci; 2012 Mar; 53(3):1353-61. PubMed ID: 22190596
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  • 14. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.
    Boycott KM, Pearce WG, Bech-Hansen NT.
    Can J Ophthalmol; 2000 Jun; 35(4):204-13. PubMed ID: 10900517
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  • 15. Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.
    Gal A, Schinzel A, Orth U, Fraser NA, Mollica F, Craig IW, Kruse T, Mächler M, Neugebauer M, Bleeker-Wagemakers LM.
    Hum Genet; 1989 Mar; 81(4):315-8. PubMed ID: 2564836
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  • 16. Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1.
    Jacobi FK, Broghammer M, Pesch K, Zrenner E, Berger W, Meindl A, Pusch CM.
    Hum Genet; 2000 Jul; 107(1):89-91. PubMed ID: 10982042
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  • 17. [Electrophysiologic tests for diagnosis of congenital night blindness].
    Lubiński W, Palacz A, Penkala K, Palacz O.
    Klin Oczna; 1996 Jan; 98(1):9-12. PubMed ID: 9019583
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  • 18. Variable expressivity in X-linked congenital stationary night blindness.
    Pearce WG, Reedyk M, Coupland SG.
    Can J Ophthalmol; 1990 Feb; 25(1):3-10. PubMed ID: 2328435
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  • 19. Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
    Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 1997 Dec; 38(13):2750-5. PubMed ID: 9418727
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  • 20. Aland eye disease: linkage data.
    Schwartz M, Rosenberg T.
    Genomics; 1991 Jun; 10(2):327-32. PubMed ID: 2071141
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