BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (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
    [TBL] [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
    [TBL] [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
    [TBL] [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; 11():977-85. PubMed ID: 16319817
    [TBL] [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; 141(3):217-226. PubMed ID: 32333190
    [TBL] [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; 17(1):17-22. PubMed ID: 9051837
    [TBL] [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; 117(1):27-30. PubMed ID: 26349155
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel compound heterozygous
    Pilotto E; Trevisson E; Nacci EB; Longhin E; Guidolin F; Midena E
    Eur J Ophthalmol; 2022 Nov; 32(6):NP1-NP5. PubMed ID: 34162253
    [TBL] [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; 48(4):350-2. PubMed ID: 15295660
    [TBL] [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; 111(7):1410-4. PubMed ID: 15234147
    [TBL] [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; 141(2):181-185. PubMed ID: 32146548
    [TBL] [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; 125(2):249-51. PubMed ID: 9467455
    [TBL] [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; 22(1):99. PubMed ID: 35246075
    [TBL] [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; 130(5):547-63. PubMed ID: 11078833
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Loss of photoreceptor outer segment in acute zonal occult outer retinopathy.
    Li D; Kishi S
    Arch Ophthalmol; 2007 Sep; 125(9):1194-200. PubMed ID: 17846358
    [TBL] [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; 55(6):3939-53. PubMed ID: 24876279
    [TBL] [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; 154(6):987-1001.e1. PubMed ID: 22959359
    [TBL] [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; 123(2):127-33. PubMed ID: 21922265
    [TBL] [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; 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; 89(5):684-91. PubMed ID: 22504327
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.