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Journal Abstract Search

169 related items for PubMed ID: 18487375

  • 1. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
    Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W.
    Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4105-14. PubMed ID: 18487375
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 5. 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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  • 6. Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
    Marmor MF, Zeitz C.
    Doc Ophthalmol; 2018 Aug; 137(1):57-62. PubMed ID: 30051303
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  • 8. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
    Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.
    Doc Ophthalmol; 2020 Apr; 140(2):147-157. PubMed ID: 31583501
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  • 9. A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
    Zeitz C, Méjécase C, Stévenard M, Michiels C, Audo I, Marmor MF.
    Biomed Res Int; 2018 Apr; 2018():7694801. PubMed ID: 29850563
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  • 10. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
    Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E.
    Am J Hum Genet; 2016 May 05; 98(5):1011-1019. PubMed ID: 27063057
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  • 11. 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 05; 47(4):1630-5. PubMed ID: 16565402
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  • 12. 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 05; 69(Pt 3):315-21. PubMed ID: 15845035
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  • 13. Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
    Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S.
    Ophthalmic Genet; 2019 Oct 05; 40(5):480-487. PubMed ID: 31696758
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  • 15. Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.
    Chai Z, Ye Y, Silverman D, Rose K, Madura A, Reed RR, Chen J, Yau KW.
    Proc Natl Acad Sci U S A; 2024 May 21; 121(21):e2404763121. PubMed ID: 38743626
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  • 17. Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.
    Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M.
    Proc Natl Acad Sci U S A; 1995 Jan 31; 92(3):880-4. PubMed ID: 7846071
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  • 19. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
    Dryja TP, Berson EL, Rao VR, Oprian DD.
    Nat Genet; 1993 Jul 31; 4(3):280-3. PubMed ID: 8358437
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