BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 15953459)

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

  • 2. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.
    Demirci FY; Rigatti BW; Mah TS; Gorin MB
    Am J Ophthalmol; 2004 Jul; 138(1):171-3. PubMed ID: 15234312
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
    Humbert G; Delettre C; Sénéchal A; Bazalgette C; Barakat A; Bazalgette C; Arnaud B; Lenaers G; Hamel CP
    Invest Ophthalmol Vis Sci; 2006 Nov; 47(11):4719-24. PubMed ID: 17065479
    [TBL] [Abstract][Full Text] [Related]  

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

  • 11. A multimodal study and management of retinitis punctata albescens.
    Espinosa-Barberi G; Galván González JF; Viera Peláez D
    Rom J Ophthalmol; 2020; 64(2):213-216. PubMed ID: 32685789
    [No Abstract]   [Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
    Hipp S; Zobor G; Glöckle N; Mohr J; Kohl S; Zrenner E; Weisschuh N; Zobor D
    Acta Ophthalmol; 2015 Jun; 93(4):e281-6. PubMed ID: 25429852
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 14(1):85-89. PubMed ID: 28827498
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (
    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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
    Grover S; Fishman GA; Stone EM
    Ophthalmology; 2004 Oct; 111(10):1910-6. PubMed ID: 15465556
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T; Gekka T; Goto-Omoto S; Takeuchi T; Kubo A; Kitahara K
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.