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Journal Abstract Search

224 related items for PubMed ID: 9888392

  • 1. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.
    al-Jandal N, Farrar GJ, Kiang AS, Humphries MM, Bannon N, Findlay JB, Humphries P, Kenna PF.
    Hum Mutat; 1999; 13(1):75-81. PubMed ID: 9888392
    [Abstract] [Full Text] [Related]

  • 2. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
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  • 3. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
    Szabo V, Kreienkamp HJ, Rosenberg T, Gal A.
    Hum Mutat; 2007 Jul; 28(7):741-2. PubMed ID: 17584859
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  • 4. Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
    Rakoczy EP, Kiel C, McKeone R, Stricher F, Serrano L.
    J Mol Biol; 2011 Jan 14; 405(2):584-606. PubMed ID: 21094163
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  • 6. Genotyping microarray for CSNB-associated genes.
    Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.
    Invest Ophthalmol Vis Sci; 2009 Dec 14; 50(12):5919-26. PubMed ID: 19578023
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  • 7. 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 14; 46(11):4328-35. PubMed ID: 16249515
    [Abstract] [Full Text] [Related]

  • 8. [Family investigation and clinical genetic analysis of a large pedigree with congenital stationary night blindness].
    Fei YJ.
    Zhonghua Yan Ke Za Zhi; 1992 May 14; 28(3):162-5. PubMed ID: 1286605
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  • 9. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
    Nakamura M, Ito S, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2001 Jun 14; 42(7):1610-6. PubMed ID: 11381068
    [Abstract] [Full Text] [Related]

  • 10. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
    Rosas DJ, Roman AJ, Weissbrod P, Macke JP, Nathans J.
    Invest Ophthalmol Vis Sci; 1994 Jul 14; 35(8):3134-44. PubMed ID: 8045708
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  • 11. 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 14; 69(Pt 3):315-21. PubMed ID: 15845035
    [Abstract] [Full Text] [Related]

  • 12. Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94 --> Ile.
    Ramon E, del Valle LJ, Garriga P.
    J Biol Chem; 2003 Feb 21; 278(8):6427-32. PubMed ID: 12466267
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  • 13. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.
    Sippel KC, DeStefano JD, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 1998 Mar 21; 39(3):665-70. PubMed ID: 9501883
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  • 19. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.
    Rao VR, Cohen GB, Oprian DD.
    Nature; 1994 Feb 17; 367(6464):639-42. PubMed ID: 8107847
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