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119 related items for PubMed ID: 23328470

  • 1. [Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy].
    Tao SY, Wang LY, Yu XF, Niu C, Pang CJ.
    Zhonghua Yi Xue Za Zhi; 2012 Dec 04; 92(45):3215-7. PubMed ID: 23328470
    [Abstract] [Full Text] [Related]

  • 2. Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
    Evans CJ, Dudakova L, Skalicka P, Mahelkova G, Horinek A, Hardcastle AJ, Tuft SJ, Liskova P.
    BMC Ophthalmol; 2018 Sep 17; 18(1):250. PubMed ID: 30223810
    [Abstract] [Full Text] [Related]

  • 3. 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 17; 256(11):2127-2134. PubMed ID: 30084067
    [Abstract] [Full Text] [Related]

  • 4. A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
    Jing Y, Liu C, Xu J, Wang L.
    Mol Vis; 2009 Jul 29; 15():1463-9. PubMed ID: 19649163
    [Abstract] [Full Text] [Related]

  • 5. A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
    Du C, Li Y, Dai L, Gong L, Han C.
    Mol Vis; 2011 Jul 29; 17():2685-92. PubMed ID: 22065921
    [Abstract] [Full Text] [Related]

  • 6. 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; 29(7):777-80. PubMed ID: 20489584
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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 24; 67(1):38-42. PubMed ID: 36367598
    [Abstract] [Full Text] [Related]

  • 9. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
    Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML.
    Am J Med Genet A; 2008 Feb 01; 146A(3):271-83. PubMed ID: 18176953
    [Abstract] [Full Text] [Related]

  • 10. Clinical and para-clinical description of a novel mutation for Schnyder dystrophy in a French family.
    Gonzalvez M, Ho Wang Yin G, Gascon P, Denis D, Hoffart L.
    J Fr Ophtalmol; 2018 Dec 01; 41(10):920-925. PubMed ID: 30446344
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  • 13. Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3.
    Dudakova L, Skalicka P, Davidson AE, Liskova P.
    Cornea; 2019 Jun 01; 38(6):758-760. PubMed ID: 30950897
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 116(6):1029-37.e1. PubMed ID: 19394700
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  • 16. Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.
    Mehta JS, Vithana EN, Venkataraman D, Venkatraman A, Yong VH, Aung T, Tan DT.
    Br J Ophthalmol; 2009 Jul 01; 93(7):926-31. PubMed ID: 19429578
    [Abstract] [Full Text] [Related]

  • 17. Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy.
    Kitazawa K, Wakimasu K, Kayukawa K, Sugimoto M, Nakai J, Weiss JS, Ueno M, Sotozono C, Kinoshita S.
    Cornea; 2018 May 01; 37(5):554-559. PubMed ID: 29319599
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  • 19. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
    Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels M.
    PLoS One; 2007 Aug 01; 2(8):e685. PubMed ID: 17668063
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 15(7):e1008289. PubMed ID: 31323021
    [Abstract] [Full Text] [Related]

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