BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 19764032)

  • 21. 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]  

  • 22. 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]  

  • 23. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
    Valente EM; Silhavy JL; Brancati F; Barrano G; Krishnaswami SR; Castori M; Lancaster MA; Boltshauser E; Boccone L; Al-Gazali L; Fazzi E; Signorini S; Louie CM; Bellacchio E; ; Bertini E; Dallapiccola B; Gleeson JG
    Nat Genet; 2006 Jun; 38(6):623-5. PubMed ID: 16682970
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.
    Papon JF; Perrault I; Coste A; Louis B; Gérard X; Hanein S; Fares-Taie L; Gerber S; Defoort-Dhellemmes S; Vojtek AM; Kaplan J; Rozet JM; Escudier E
    J Med Genet; 2010 Dec; 47(12):829-34. PubMed ID: 20805370
    [TBL] [Abstract][Full Text] [Related]  

  • 26. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
    Kim J; Krishnaswami SR; Gleeson JG
    Hum Mol Genet; 2008 Dec; 17(23):3796-805. PubMed ID: 18772192
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
    Slaats GG; Saldivar JC; Bacal J; Zeman MK; Kile AC; Hynes AM; Srivastava S; Nazmutdinova J; den Ouden K; Zagers MS; Foletto V; Verhaar MC; Miles C; Sayer JA; Cimprich KA; Giles RH
    J Clin Invest; 2015 Sep; 125(9):3657-66. PubMed ID: 26301811
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.
    Cheng YZ; Eley L; Hynes AM; Overman LM; Simms RJ; Barker A; Dawe HR; Lindsay S; Sayer JA
    PLoS One; 2012; 7(9):e44975. PubMed ID: 23028714
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.
    Logan CV; Abdel-Hamed Z; Johnson CA
    Mol Neurobiol; 2011 Feb; 43(1):12-26. PubMed ID: 21110233
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
    Traboulsi EI; Koenekoop R; Stone EM
    Ophthalmic Genet; 2006 Dec; 27(4):113-5. PubMed ID: 17148037
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].
    Aboussair N; Berahou A; Perrault I; Elalaoui SC; Megzari A; Rozet JM; Kaplan J; Sefiani A
    J Fr Ophtalmol; 2010 Feb; 33(2):117.e1-5. PubMed ID: 20056295
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in
    Rafalska A; Tracewska AM; Turno-Kręcicka A; Szafraniec MJ; Misiuk-Hojło M
    Genes (Basel); 2020 Oct; 11(11):. PubMed ID: 33105651
    [No Abstract]   [Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. CEP290 and the primary cilium.
    Drivas TG; Bennett J
    Adv Exp Med Biol; 2014; 801():519-25. PubMed ID: 24664739
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
    Cideciyan AV; Rachel RA; Aleman TS; Swider M; Schwartz SB; Sumaroka A; Roman AJ; Stone EM; Jacobson SG; Swaroop A
    Hum Mol Genet; 2011 Apr; 20(7):1411-23. PubMed ID: 21245082
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.
    McEwen DP; Koenekoop RK; Khanna H; Jenkins PM; Lopez I; Swaroop A; Martens JR
    Proc Natl Acad Sci U S A; 2007 Oct; 104(40):15917-22. PubMed ID: 17898177
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.