BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 36495011)

  • 1. Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA
    Minella AL; Narfström Wiechel K; Petersen-Jones SM
    Vet Ophthalmol; 2023 Jan; 26(1):4-11. PubMed ID: 36495011
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
    Garanto A; van Beersum SE; Peters TA; Roepman R; Cremers FP; Collin RW
    PLoS One; 2013; 8(11):e79369. PubMed ID: 24223178
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
    den Hollander AI; Koenekoop RK; Yzer S; Lopez I; Arends ML; Voesenek KE; Zonneveld MN; Strom TM; Meitinger T; Brunner HG; Hoyng CB; van den Born LI; Rohrschneider K; Cremers FP
    Am J Hum Genet; 2006 Sep; 79(3):556-61. PubMed ID: 16909394
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel
    Chen BB; Zhai Y; Huo YN; Yang S; Zhang ZY
    Ophthalmic Genet; 2022 Feb; 43(1):97-103. PubMed ID: 34809537
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.
    Barny I; Perrault I; Rio M; Dollfus H; Defoort-Dhellemmes S; Kaplan J; Rozet JM; Gerard X
    Adv Exp Med Biol; 2019; 1185():189-195. PubMed ID: 31884610
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.
    Baye LM; Patrinostro X; Swaminathan S; Beck JS; Zhang Y; Stone EM; Sheffield VC; Slusarski DC
    Hum Mol Genet; 2011 Apr; 20(8):1467-77. PubMed ID: 21257638
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
    Perrault I; Delphin N; Hanein S; Gerber S; Dufier JL; Roche O; Defoort-Dhellemmes S; Dollfus H; Fazzi E; Munnich A; Kaplan J; Rozet JM
    Hum Mutat; 2007 Apr; 28(4):416. PubMed ID: 17345604
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation in CEP290 discovered for cat model of human retinal degeneration.
    Menotti-Raymond M; David VA; Schäffer AA; Stephens R; Wells D; Kumar-Singh R; O'Brien SJ; Narfström K
    J Hered; 2007; 98(3):211-20. PubMed ID: 17507457
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
    Littink KW; Pott JW; Collin RW; Kroes HY; Verheij JB; Blokland EA; de Castro Miró M; Hoyng CB; Klaver CC; Koenekoop RK; Rohrschneider K; Cremers FP; van den Born LI; den Hollander AI
    Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3646-52. PubMed ID: 20130272
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
    Yzer S; Hollander AI; Lopez I; Pott JW; de Faber JT; Cremers FP; Koenekoop RK; van den Born LI
    Mol Vis; 2012; 18():412-25. PubMed ID: 22355252
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
    Boye SE; Huang WC; Roman AJ; Sumaroka A; Boye SL; Ryals RC; Olivares MB; Ruan Q; Tucker BA; Stone EM; Swaroop A; Cideciyan AV; Hauswirth WW; Jacobson SG
    PLoS One; 2014; 9(3):e92928. PubMed ID: 24671090
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10.
    Ruan GX; Barry E; Yu D; Lukason M; Cheng SH; Scaria A
    Mol Ther; 2017 Feb; 25(2):331-341. PubMed ID: 28109959
    [TBL] [Abstract][Full Text] [Related]  

  • 13. In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
    Garanto A; Chung DC; Duijkers L; Corral-Serrano JC; Messchaert M; Xiao R; Bennett J; Vandenberghe LH; Collin RW
    Hum Mol Genet; 2016 Jun; 25(12):2552-2563. PubMed ID: 27106101
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Fleck-like lesions in
    Aleman TS; O'Neil EC; Uyhazi KE; Parchinski KM; Santos AJ; Weber ML; Colclough SP; Billek AS; Zhu X; Leroy BP; Bedoukian EC
    Ophthalmic Genet; 2022 Dec; 43(6):824-833. PubMed ID: 36469661
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.
    Duijkers L; van den Born LI; Neidhardt J; Bax NM; Pierrache LHM; Klevering BJ; Collin RWJ; Garanto A
    Int J Mol Sci; 2018 Mar; 19(3):. PubMed ID: 29518907
    [TBL] [Abstract][Full Text] [Related]  

  • 16. AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent
    Barny I; Perrault I; Michel C; Goudin N; Defoort-Dhellemmes S; Ghazi I; Kaplan J; Rozet JM; Gerard X
    Genes (Basel); 2019 May; 10(5):. PubMed ID: 31091803
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
    Feldhaus B; Weisschuh N; Nasser F; den Hollander AI; Cremers FPM; Zrenner E; Kohl S; Zobor D
    Am J Ophthalmol; 2020 Mar; 211():142-150. PubMed ID: 31734136
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration.
    Mookherjee S; Chen HY; Isgrig K; Yu W; Hiriyanna S; Levron R; Li T; Colosi P; Chien W; Swaroop A; Wu Z
    Cell Rep; 2018 Oct; 25(3):611-623.e6. PubMed ID: 30332642
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
    Sheck L; Davies WIL; Moradi P; Robson AG; Kumaran N; Liasis AC; Webster AR; Moore AT; Michaelides M
    Ophthalmology; 2018 Jun; 125(6):894-903. PubMed ID: 29398085
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
    Cideciyan AV; Aleman TS; Jacobson SG; Khanna H; Sumaroka A; Aguirre GK; Schwartz SB; Windsor EA; He S; Chang B; Stone EM; Swaroop A
    Hum Mutat; 2007 Nov; 28(11):1074-83. PubMed ID: 17554762
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.