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122 related items for PubMed ID: 32953689

  • 1. A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report.
    Aryan H, Bahadori A, Farhud DD, Zarif Yeganeh M, Pourkalhor H.
    Iran J Public Health; 2020 May; 49(5):995-1000. PubMed ID: 32953689
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  • 7. Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
    Tawfik CA, Elbagoury NM, Khater NI, Essawi ML.
    BMC Ophthalmol; 2022 May 12; 22(1):217. PubMed ID: 35549688
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  • 9. A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.
    Waheed NK, Qavi AH, Malik SN, Maria M, Riaz M, Cremers FP, Azam M, Qamar R.
    Mol Vis; 2012 May 12; 18():1253-9. PubMed ID: 22665972
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  • 10. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
    Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T.
    Ophthalmology; 2019 Nov 12; 126(11):1557-1566. PubMed ID: 31257036
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  • 11. Oguchi type I caused by a homozygous missense variation in the SAG gene.
    Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L.
    Eur J Med Genet; 2019 Sep 12; 62(9):103548. PubMed ID: 30267901
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  • 14. A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
    Huang L, Li W, Tang W, Zhu X, Ou-Yang P, Lu G.
    Mol Vis; 2012 Sep 12; 18():528-36. PubMed ID: 22419846
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  • 15. A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2005 Nov 14; 11():977-85. PubMed ID: 16319817
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  • 16. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
    Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A.
    Nat Genet; 1995 Jul 14; 10(3):360-2. PubMed ID: 7670478
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  • 17. 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 14; 40(5):480-487. PubMed ID: 31696758
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  • 18. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
    Yamamoto S, Sippel KC, Berson EL, Dryja TP.
    Nat Genet; 1997 Feb 14; 15(2):175-8. PubMed ID: 9020843
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  • 19. A novel missense mutation of the GRK1 gene in Oguchi disease.
    Teke MY, Citirik M, Kabacam S, Demircan S, Alikasifoglu M.
    Mol Med Rep; 2016 Oct 14; 14(4):3129-33. PubMed ID: 27511724
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  • 20. A 5-year-old Syrian female was born with Oguchi disease: a rare case report.
    Habeeb R, Baba M, Bazkke B, Zazo A, Marashi A.
    Ann Med Surg (Lond); 2023 Apr 14; 85(4):918-921. PubMed ID: 37113844
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