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Journal Abstract Search

197 related items for PubMed ID: 21447990

  • 1. Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.
    Hayashi T, Tsuzuranuki S, Kozaki K, Urashima M, Tsuneoka H.
    Ophthalmic Res; 2011 Oct; 46(4):175-80. PubMed ID: 21447990
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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; 126(11):1557-1566. PubMed ID: 31257036
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.
    Liu X, Gao L, Wang G, Long Y, Ren J, Fujinami K, Meng X, Li S.
    Doc Ophthalmol; 2020 Dec 14; 141(3):217-226. PubMed ID: 32333190
    [Abstract] [Full Text] [Related]

  • 6. Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene.
    Nakazawa M, Wada Y, Fuchs S, Gal A, Tamai M.
    Retina; 1997 Dec 14; 17(1):17-22. PubMed ID: 9051837
    [Abstract] [Full Text] [Related]

  • 7. 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 Dec 14; 117(1):27-30. PubMed ID: 26349155
    [Abstract] [Full Text] [Related]

  • 8. 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 14; 32(6):NP1-NP5. PubMed ID: 34162253
    [Abstract] [Full Text] [Related]

  • 9. 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 Nov 14; 48(4):350-2. PubMed ID: 15295660
    [Abstract] [Full Text] [Related]

  • 10. 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 14; 111(7):1410-4. PubMed ID: 15234147
    [Abstract] [Full Text] [Related]

  • 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 14; 141(2):181-185. PubMed ID: 32146548
    [Abstract] [Full Text] [Related]

  • 12. Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene.
    Nakamachi Y, Nakamura M, Fujii S, Yamamoto M, Okubo K.
    Am J Ophthalmol; 1998 Feb 14; 125(2):249-51. PubMed ID: 9467455
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 04; 130(5):547-63. PubMed ID: 11078833
    [Abstract] [Full Text] [Related]

  • 15. Loss of photoreceptor outer segment in acute zonal occult outer retinopathy.
    Li D, Kishi S.
    Arch Ophthalmol; 2007 Sep 04; 125(9):1194-200. PubMed ID: 17846358
    [Abstract] [Full Text] [Related]

  • 16. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2014 May 29; 55(6):3939-53. PubMed ID: 24876279
    [Abstract] [Full Text] [Related]

  • 17. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
    Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J.
    Am J Ophthalmol; 2012 Dec 29; 154(6):987-1001.e1. PubMed ID: 22959359
    [Abstract] [Full Text] [Related]

  • 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 29; 123(2):127-33. PubMed ID: 21922265
    [Abstract] [Full Text] [Related]

  • 19. A novel GRK1 mutation in an Italian patient with Oguchi disease.
    Mucciolo DP, Sodi A, Murro V, Passerini I, Palchetti S, Pelo E, Virgili G, Rizzo S.
    Ophthalmic Genet; 2018 Oct 29; 39(1):137-138. PubMed ID: 28511019
    [No Abstract] [Full Text] [Related]

  • 20. Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
    Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H.
    Optom Vis Sci; 2012 May 29; 89(5):684-91. PubMed ID: 22504327
    [Abstract] [Full Text] [Related]

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