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Journal Abstract Search

207 related items for PubMed ID: 10102299

  • 1. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
    Morimura H, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 1999 Apr; 40(5):1000-4. PubMed ID: 10102299
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  • 3. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
    Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K.
    Invest Ophthalmol Vis Sci; 1999 Apr; 40(5):995-1000. PubMed ID: 10102298
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  • 4. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
    Dryja TP, Rucinski DE, Chen SH, Berson EL.
    Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1859-65. PubMed ID: 10393062
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  • 5. 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
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  • 9. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.
    Sippel KC, DeStefano JD, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 1998 Mar; 39(3):665-70. PubMed ID: 9501883
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  • 10. Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.
    Bernal S, Calaf M, Adan A, Solans T, Valverde D, Ayuso C, Baiget M.
    Ophthalmic Genet; 2001 Mar; 22(1):19-25. PubMed ID: 11262646
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  • 12. 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
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  • 13. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.
    Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ.
    Nat Genet; 1997 Oct; 17(2):198-200. PubMed ID: 9326942
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  • 14. Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.
    Liu L, Chen H, Liu M, Jin L, Wei Y, Wu X, Liu Y, Xhu R, Chai J.
    Chin Med J (Engl); 2002 Jun; 115(6):833-6. PubMed ID: 12123547
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  • 16. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
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  • 19. Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
    Nishiguchi KM, Berson EL, Dryja TP.
    Mol Vis; 2004 Jan 26; 10():62-4. PubMed ID: 14758335
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