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    Results: 5

    1.

    Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

    Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD.

    Am J Hum Genet. 2009 Nov;85(5):581-92. Epub 2009 Oct 22.PMID: 19853238 [PubMed - in process]Related articles

    2.

    ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

    Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD.

    J Med Genet. 2009 Sep;46(9):620-5. Epub 2008 Jul 8.PMID: 18611979 [PubMed - in process]Related articles

    3.

    Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

    Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC.

    Am J Hum Genet. 2008 Jan;82(1):19-31.PMID: 18179881 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

    Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC.

    Hum Mol Genet. 2007 Jul 15;16(14):1773-82. Epub 2007 May 21.PMID: 17517692 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.

    Urquhart JE, Biswas S, Black GC, Munier FL, Sutphin J.

    Br J Ophthalmol. 2006 Nov;90(11):1430-1. No abstract available. PMID: 17057173 [PubMed - indexed for MEDLINE]Related articlesFree article

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