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Journal Abstract Search

93 related items for PubMed ID: 21987685

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  • 3. 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; 114(1):134-41. PubMed ID: 17070587
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  • 7. Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.
    Nakamura M, Yamamoto S, Okada M, Ito S, Tano Y, Miyake Y.
    Ophthalmology; 2004 Jul; 111(7):1410-4. PubMed ID: 15234147
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  • 8. 1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease.
    Yamada T, Matsumoto M, Kadoi C, Nagaki Y, Hayasaka Y, Hayasaka S.
    Ophthalmic Genet; 1999 Jun; 20(2):117-20. PubMed ID: 10420197
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  • 10. 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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  • 11. 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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  • 14. The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.
    Skorczyk-Werner A, Kocięcki J, Wawrocka A, Wicher K, Krawczyńiski MR.
    Klin Oczna; 2015 Oct 04; 117(1):27-30. PubMed ID: 26349155
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  • 15. Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
    Saga M, Mashima Y, Kudoh J, Oguchi Y, Shimizu N.
    Jpn J Ophthalmol; 2004 Oct 04; 48(4):350-2. PubMed ID: 15295660
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  • 16. Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease.
    Usui T, Ichibe M, Ueki S, Takagi M, Hasegawa S, Abe H, Sekiya K, Nakazawa M.
    Am J Ophthalmol; 2000 Sep 04; 130(3):359-61. PubMed ID: 11020420
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  • 17. Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
    Wei X, Li H, Wu S, Zhu T, Sui R.
    Doc Ophthalmol; 2023 Feb 04; 146(1):17-32. PubMed ID: 36417138
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  • 18. [Oguchi disease or stationary congenital night blindness: a case report].
    Boissonnot M, Robert MF, Gilbert-Dussardier B, Dighiero P.
    J Fr Ophtalmol; 2007 Jan 04; 30(1):e2. PubMed ID: 17287664
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  • 19. 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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  • 20. Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.
    Pilotto E, Trevisson E, Nacci EB, Longhin E, Guidolin F, Midena E.
    Eur J Ophthalmol; 2022 Nov 12; 32(6):NP1-NP5. PubMed ID: 34162253
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