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Journal Abstract Search

117 related items for PubMed ID: 30267901

  • 1. 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; 62(9):103548. PubMed ID: 30267901
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  • 2. A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report.
    Deng Z, Fan F, Tang D, Wu Y, Shu Y, Wu K.
    BMC Ophthalmol; 2022 Mar 04; 22(1):99. PubMed ID: 35246075
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  • 3. Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.
    Ballios BG, Weisbrod D, Kohly R, Muni RH, Wright T, Yan P.
    Doc Ophthalmol; 2020 Oct 04; 141(2):181-185. PubMed ID: 32146548
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  • 4. 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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  • 5. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
    Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K.
    Ophthalmology; 2007 Jan 12; 114(1):134-41. PubMed ID: 17070587
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  • 10. 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 Jan 12; 18():1253-9. PubMed ID: 22665972
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  • 13. 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 12; 14(4):3129-33. PubMed ID: 27511724
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  • 15. New variants and in silico analyses in GRK1 associated Oguchi disease.
    Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF.
    Hum Mutat; 2021 Feb 12; 42(2):164-176. PubMed ID: 33252155
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  • 16. 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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  • 17. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.
    Dryja TP.
    Am J Ophthalmol; 2000 Nov 14; 130(5):547-63. PubMed ID: 11078833
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  • 18. Oguchi disease masked by retinitis pigmentosa.
    Sonoyama H, Shinoda K, Ishigami C, Tada Y, Ideta H, Ideta R, Takahashi M, Miyake Y.
    Doc Ophthalmol; 2011 Oct 14; 123(2):127-33. PubMed ID: 21922265
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  • 19. 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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  • 20. 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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