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301 related items for PubMed ID: 22551409

  • 1. 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]

  • 2. 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]

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  • 4. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
    Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O.
    Arch Ophthalmol; 2001 Feb; 119(2):260-7. PubMed ID: 11176989
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.
    Burstedt MS, Golovleva I.
    Arch Ophthalmol; 2010 Aug; 128(8):989-95. PubMed ID: 20696998
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
    Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I.
    Invest Ophthalmol Vis Sci; 2008 Jul; 49(7):3172-7. PubMed ID: 18344446
    [Abstract] [Full Text] [Related]

  • 9. Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene.
    Gränse L, Abrahamson M, Ponjavic V, Andréasson S.
    Ophthalmic Genet; 2001 Jun; 22(2):97-105. PubMed ID: 11449319
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.
    Nakamura M, Lin J, Ito Y, Miyake Y.
    Am J Ophthalmol; 2005 Jun; 139(6):1133-5. PubMed ID: 15953459
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS.
    Bagheri S, Pantrangi M, Sodhi SK, Bagheri S, Oellers P, Scholl HPN.
    Retin Cases Brief Rep; 2020 Jun; 14(1):85-89. PubMed ID: 28827498
    [Abstract] [Full Text] [Related]

  • 15. Clinical features of a Japanese case with Bothnia dystrophy.
    Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, Kato M, Kondo M, Minoshima S, Hotta Y.
    Ophthalmic Genet; 2012 Jun; 33(2):83-8. PubMed ID: 22171637
    [Abstract] [Full Text] [Related]

  • 16. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 17. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep; 35(3):130-7. PubMed ID: 23767994
    [Abstract] [Full Text] [Related]

  • 18. A multimodal study and management of retinitis punctata albescens.
    Espinosa-Barberi G, Galván González JF, Viera Peláez D.
    Rom J Ophthalmol; 2020 Sep; 64(2):213-216. PubMed ID: 32685789
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.
    Torres-Costa S, Ferreira CS, Grangeia A, Santos-Silva R, Brandão E, Estrela-Silva S, Falcão-Reis F.
    Eur J Ophthalmol; 2021 May; 31(3):NP74-NP80. PubMed ID: 32345050
    [Abstract] [Full Text] [Related]

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