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Journal Abstract Search

221 related items for PubMed ID: 27623334

  • 1. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
    Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born LI, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR.
    Invest Ophthalmol Vis Sci; 2016 Sep 01; 57(11):4806-13. PubMed ID: 27623334
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  • 2. A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.
    Mermeklieva E, Kamenarova K, Mihova K, Shakola F, Kaneva R.
    Ophthalmic Genet; 2021 Dec 01; 42(6):747-752. PubMed ID: 34229535
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  • 4. Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
    Nikopoulos K, Avila-Fernandez A, Corton M, Lopez-Molina MI, Perez-Carro R, Bontadelli L, Di Gioia SA, Zurita O, Garcia-Sandoval B, Rivolta C, Ayuso C.
    Sci Rep; 2015 Sep 09; 5():13902. PubMed ID: 26350383
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  • 7. Deep phenotyping of the Cdhr1-/- mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration.
    Yusuf IH, McClements ME, MacLaren RE, Charbel Issa P.
    Exp Eye Res; 2021 Jul 09; 208():108603. PubMed ID: 33964272
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  • 8. Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
    Bessette AP, DeBenedictis MJ, Traboulsi EI.
    Ophthalmic Genet; 2018 Jul 09; 39(1):51-55. PubMed ID: 28885867
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  • 10. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
    Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT.
    Invest Ophthalmol Vis Sci; 2015 Apr 09; 56(4):2358-65. PubMed ID: 25766589
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  • 11. Clinical characteristics of early retinal disease due to CDHR1 mutation.
    Ba-Abbad R, Sergouniotis PI, Plagnol V, Robson AG, Michaelides M, Holder GE, Webster AR.
    Mol Vis; 2013 Apr 09; 19():2250-9. PubMed ID: 24265541
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  • 13. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
    Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P.
    Graefes Arch Clin Exp Ophthalmol; 2016 Sep 09; 254(9):1833-9. PubMed ID: 27113771
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  • 15. Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.
    Ba-Abbad R, Leys M, Wang X, Chakarova C, Waseem N, Carss KJ, Raymond FL, Bujakowska KM, Pierce EA, Mahroo OA, Mohamed MD, Holder GE, Hummel M, Arno G, Webster AR.
    Invest Ophthalmol Vis Sci; 2018 Oct 01; 59(12):4812-4820. PubMed ID: 30347075
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  • 17. Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
    Murro V, Mucciolo DP, Sodi A, Passerini I, Giorgio D, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2019 Jan 01; 257(1):9-22. PubMed ID: 30324420
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  • 18. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep 01; 35(3):130-7. PubMed ID: 23767994
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  • 19. Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations.
    Khan AO, Al Teneiji AM.
    Ophthalmic Genet; 2019 Jun 01; 40(3):247-251. PubMed ID: 31264916
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  • 20. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
    Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC, UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.
    JAMA Ophthalmol; 2017 Apr 01; 135(4):339-347. PubMed ID: 28253385
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