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Journal Abstract Search

466 related items for PubMed ID: 20450307

  • 1. Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens.
    Genead MA, Fishman GA, Lindeman M.
    Ophthalmic Genet; 2010 Jun; 31(2):66-72. PubMed ID: 20450307
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
    Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S.
    Doc Ophthalmol; 2018 Apr; 136(2):135-143. PubMed ID: 29525873
    [Abstract] [Full Text] [Related]

  • 4. Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
    Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I.
    Acta Ophthalmol; 2013 Aug; 91(5):437-44. PubMed ID: 22551409
    [Abstract] [Full Text] [Related]

  • 5. Disappearance of puncta after uveitis in an eye with fundus albipunctatus.
    Imaizumi M, Tatewaki SY, Kimoto K, Takaki Y, Nakatsuka K, Furushima M, Matsumoto CS, Choshi T.
    Retina; 2005 Dec; 25(8):1096-8. PubMed ID: 16340543
    [No Abstract] [Full Text] [Related]

  • 6. A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
    Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI.
    Ophthalmology; 2012 Sep; 119(9):1899-906. PubMed ID: 22559933
    [Abstract] [Full Text] [Related]

  • 7. Clinical and molecular characterization of enhanced S-cone syndrome in children.
    Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT.
    JAMA Ophthalmol; 2014 Nov; 132(11):1341-9. PubMed ID: 25079116
    [Abstract] [Full Text] [Related]

  • 8. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

  • 9. Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
    Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP.
    JAMA Ophthalmol; 2013 Oct; 131(10):1314-23. PubMed ID: 23929416
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2010 Jan; 51(1):89-95. PubMed ID: 19797231
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Diagnosis in a patient with fundus albipunctatus and atypical fundus changes.
    Hajali M, Fishman GA, Dryja TP, Sweeney MO, Lindeman M.
    Doc Ophthalmol; 2009 Jun; 118(3):233-8. PubMed ID: 18949499
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Flecked retina disorders.
    De Laey JJ.
    Bull Soc Belge Ophtalmol; 1993 May; 249():11-22. PubMed ID: 7952338
    [Abstract] [Full Text] [Related]

  • 16. Novel findings in enhanced S-cone syndrome: a case with macular retinal neovascularization and severe retinal vasculitis.
    Bazvand F, Khojasteh H, Zarei M.
    Doc Ophthalmol; 2019 Dec; 139(3):221-226. PubMed ID: 31292819
    [Abstract] [Full Text] [Related]

  • 17. Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
    Marmor MF, Zeitz C.
    Doc Ophthalmol; 2018 Aug; 137(1):57-62. PubMed ID: 30051303
    [Abstract] [Full Text] [Related]

  • 18. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
    Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP.
    Arch Ophthalmol; 2004 Jan; 122(1):70-5. PubMed ID: 14718298
    [Abstract] [Full Text] [Related]

  • 19. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
    Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC.
    Mol Vis; 1999 Dec 30; 5():41. PubMed ID: 10617778
    [Abstract] [Full Text] [Related]

  • 20. 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 30; 130(5):547-63. PubMed ID: 11078833
    [Abstract] [Full Text] [Related]

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