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Journal Abstract Search

150 related items for PubMed ID: 35549688

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 4. 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 04; 126(11):1557-1566. PubMed ID: 31257036
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 32(6):NP1-NP5. PubMed ID: 34162253
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 04; 114(1):134-41. PubMed ID: 17070587
    [Abstract] [Full Text] [Related]

  • 8. 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 04; 141(3):217-226. PubMed ID: 32333190
    [Abstract] [Full Text] [Related]

  • 9. 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 04; 49(5):995-1000. PubMed ID: 32953689
    [Abstract] [Full Text] [Related]

  • 10. 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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  • 12. 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 14; 62(9):103548. PubMed ID: 30267901
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  • 15. 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 14; 154(6):987-1001.e1. PubMed ID: 22959359
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  • 17. 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 Dec 14; 18():528-36. PubMed ID: 22419846
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  • 19. 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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