These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 9801879)

  • 1. Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
    Marlhens F; Griffoin JM; Bareil C; Arnaud B; Claustres M; Hamel CP
    Eur J Hum Genet; 1998; 6(5):527-31. PubMed ID: 9801879
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
    Gu SM; Thompson DA; Srikumari CR; Lorenz B; Finckh U; Nicoletti A; Murthy KR; Rathmann M; Kumaramanickavel G; Denton MJ; Gal A
    Nat Genet; 1997 Oct; 17(2):194-7. PubMed ID: 9326941
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.
    Veske A; Nilsson SE; Narfström K; Gal A
    Genomics; 1999 Apr; 57(1):57-61. PubMed ID: 10191083
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
    Pang JJ; Chang B; Hawes NL; Hurd RE; Davisson MT; Li J; Noorwez SM; Malhotra R; McDowell JH; Kaushal S; Hauswirth WW; Nusinowitz S; Thompson DA; Heckenlively JR
    Mol Vis; 2005 Feb; 11():152-62. PubMed ID: 15765048
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
    Poehner WJ; Fossarello M; Rapoport AL; Aleman TS; Cideciyan AV; Jacobson SG; Wright AF; Danciger M; Farber DB
    Mol Vis; 2000 Oct; 6():192-8. PubMed ID: 11062306
    [TBL] [Abstract][Full Text] [Related]  

  • 6. R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
    Samardzija M; von Lintig J; Tanimoto N; Oberhauser V; Thiersch M; Remé CE; Seeliger M; Grimm C; Wenzel A
    Hum Mol Genet; 2008 Jan; 17(2):281-92. PubMed ID: 17933883
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
    Thompson DA; Gyürüs P; Fleischer LL; Bingham EL; McHenry CL; Apfelstedt-Sylla E; Zrenner E; Lorenz B; Richards JE; Jacobson SG; Sieving PA; Gal A
    Invest Ophthalmol Vis Sci; 2000 Dec; 41(13):4293-9. PubMed ID: 11095629
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein.
    Nicoletti A; Kawase K; Thompson DA
    Invest Ophthalmol Vis Sci; 1998 Mar; 39(3):637-44. PubMed ID: 9501877
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.
    Lorenz B; Wabbels B; Wegscheider E; Hamel CP; Drexler W; Preising MN
    Ophthalmology; 2004 Aug; 111(8):1585-94. PubMed ID: 15288992
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.
    Aguirre GD; Baldwin V; Pearce-Kelling S; Narfström K; Ray K; Acland GM
    Mol Vis; 1998 Oct; 4():23. PubMed ID: 9808841
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
    Lorenz B; Gyürüs P; Preising M; Bremser D; Gu S; Andrassi M; Gerth C; Gal A
    Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2735-42. PubMed ID: 10937591
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
    Chen Y; Moiseyev G; Takahashi Y; Ma JX
    FEBS Lett; 2006 Jul; 580(17):4200-4. PubMed ID: 16828753
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes.
    Lord-Grignon J; Tétreault N; Mears AJ; Swaroop A; Bernier G
    Invest Ophthalmol Vis Sci; 2004 Sep; 45(9):3313-9. PubMed ID: 15326156
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium.
    Rolling F; Le Meur G; Stieger K; Smith AJ; Weber M; Deschamps JY; Nivard D; Mendes-Madeira A; Provost N; Péréon Y; Cherel Y; Ali RR; Hamel C; Moullier P; Rolling F
    Bull Mem Acad R Med Belg; 2006; 161(10-12):497-508; discussion 508-9. PubMed ID: 17503728
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3.
    Hamel CP; Jenkins NA; Gilbert DJ; Copeland NG; Redmond TM
    Genomics; 1994 Apr; 20(3):509-12. PubMed ID: 8034329
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.
    Redmond TM; Yu S; Lee E; Bok D; Hamasaki D; Chen N; Goletz P; Ma JX; Crouch RK; Pfeifer K
    Nat Genet; 1998 Dec; 20(4):344-51. PubMed ID: 9843205
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CRB1 mutation spectrum in inherited retinal dystrophies.
    den Hollander AI; Davis J; van der Velde-Visser SD; Zonneveld MN; Pierrottet CO; Koenekoop RK; Kellner U; van den Born LI; Heckenlively JR; Hoyng CB; Handford PA; Roepman R; Cremers FP
    Hum Mutat; 2004 Nov; 24(5):355-69. PubMed ID: 15459956
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium.
    Katz ML; Redmond TM
    Invest Ophthalmol Vis Sci; 2001 Nov; 42(12):3023-30. PubMed ID: 11687551
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.