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Journal Abstract Search

593 related items for PubMed ID: 11078833

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

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

  • 3. Fundus albipunctatus and other flecked retina syndromes.
    Flynn MF, Bohnert D.
    J Am Optom Assoc; 1999 Sep; 70(9):571-80. PubMed ID: 10547972
    [Abstract] [Full Text] [Related]

  • 4. A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.
    Barnes CS, Alexander KR, Fishman GA.
    Ophthalmology; 2002 Mar; 109(3):575-83. PubMed ID: 11874764
    [Abstract] [Full Text] [Related]

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

  • 6. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
    [Abstract] [Full Text] [Related]

  • 7. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy.
    Wada Y, Abe T, Sato H, Tamai M.
    Arch Ophthalmol; 2001 Jul; 119(7):1059-63. PubMed ID: 11448328
    [Abstract] [Full Text] [Related]

  • 8. Rod and cone function in the Nougaret form of stationary night blindness.
    Sandberg MA, Pawlyk BS, Dan J, Arnaud B, Dryja TP, Berson EL.
    Arch Ophthalmol; 1998 Jul; 116(7):867-72. PubMed ID: 9682699
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
    Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.
    Ophthalmology; 2013 Oct; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 12. [Molecular genetic study of congenital stationary night blindness].
    Nakamura M, Miyake Y.
    Nippon Ganka Gakkai Zasshi; 2004 Nov; 108(11):665-73. PubMed ID: 15584351
    [Abstract] [Full Text] [Related]

  • 13. Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
    Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S.
    Ophthalmic Genet; 2019 Oct; 40(5):480-487. PubMed ID: 31696758
    [Abstract] [Full Text] [Related]

  • 14. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
    Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W.
    Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4105-14. PubMed ID: 18487375
    [Abstract] [Full Text] [Related]

  • 15. 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; 15(2):175-8. PubMed ID: 9020843
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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; 117(1):27-30. PubMed ID: 26349155
    [Abstract] [Full Text] [Related]

  • 18. Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
    Hayashi T, Goto-Omoto S, Takeuchi T, Gekka T, Ueoka Y, Kitahara K.
    Acta Ophthalmol Scand; 2006 Apr; 84(2):254-8. PubMed ID: 16637847
    [Abstract] [Full Text] [Related]

  • 19. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
    Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR.
    Ophthalmology; 2011 Aug; 118(8):1661-70. PubMed ID: 21529959
    [Abstract] [Full Text] [Related]

  • 20. Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram.
    Noble KG, Carr RE, Siegel IM.
    Am J Ophthalmol; 1990 Jan 15; 109(1):44-8. PubMed ID: 2297031
    [Abstract] [Full Text] [Related]

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