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Journal Abstract Search

188 related items for PubMed ID: 30223810

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  • 2. Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.
    Sarosiak A, Udziela M, Ścieżyńska A, Oziębło D, Wawrzynowska A, Szaflik JP, Ołdak M.
    Graefes Arch Clin Exp Ophthalmol; 2018 Nov; 256(11):2127-2134. PubMed ID: 30084067
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  • 8. In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.
    Kobayashi A, Fujiki K, Murakami A, Sugiyama K.
    Ophthalmology; 2009 Jun; 116(6):1029-37.e1. PubMed ID: 19394700
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  • 9. UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
    Tsuneya M, Chen LW, Ono T, Hashimoto Y, Kitamoto K, Taketani Y, Toyono T, Aihara M, Miyai T.
    Jpn J Ophthalmol; 2023 Jan; 67(1):38-42. PubMed ID: 36367598
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  • 10. Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.
    Weiss JS, Wiaux C, Yellore V, Raber I, Eagle R, Mequio M, Aldave A.
    Cornea; 2010 Jul; 29(7):777-80. PubMed ID: 20489584
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  • 11. Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.
    Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB, Aldave AJ.
    Mol Vis; 2007 Sep 24; 13():1777-82. PubMed ID: 17960116
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  • 14. Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.
    Jiang SY, Tang JJ, Xiao X, Qi W, Wu S, Jiang C, Hong J, Xu J, Song BL, Luo J.
    PLoS Genet; 2019 Jul 24; 15(7):e1008289. PubMed ID: 31323021
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  • 15. A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
    Dong F, Jin X, Boettler MA, Sciulli H, Abu-Asab M, Del Greco C, Wang S, Hu YC, Campos MM, Jackson SN, Muller L, Woods AS, Combs CA, Zhang J, Nickerson ML, Kruth HS, Weiss JS, Kao WW.
    Sci Rep; 2018 Jul 05; 8(1):10219. PubMed ID: 29977031
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  • 16. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
    Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, Yamada M, Tervo TM, Grutzmacher R, Croasdale C, Hoeltzenbein M, Sutphin J, Malkowicz SB, Wessjohann L, Kruth HS, Dean M, Weiss JS.
    PLoS One; 2010 May 21; 5(5):e10760. PubMed ID: 20505825
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  • 17. Differential diagnosis of Schnyder corneal dystrophy.
    Weiss JS, Khemichian AJ.
    Dev Ophthalmol; 2011 May 21; 48():67-96. PubMed ID: 21540632
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  • 18. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.
    Lin BR, Frausto RF, Vo RC, Chiu SY, Chen JL, Aldave AJ.
    J Ophthalmol; 2016 May 21; 2016():1968493. PubMed ID: 27382485
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