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    Results: 1 to 20 of 389

    1.

    Deletion in the OA1 gene in a family with congenital X linked nystagmus.

    Preising M, Op de Laak JP, Lorenz B.

    Br J Ophthalmol. 2001 Sep;85(9):1098-103.PMID: 11520764 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)

    Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM.

    Ophthalmic Genet. 1997 Dec;18(4):175-84. Erratum in: Ophthalmic Genet 1998 Sep;19(3):173. PMID: 9457748 [PubMed - indexed for MEDLINE]Related articles

    3.

    Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.

    Xiao X, Zhang Q.

    Am J Med Genet A. 2009 Aug;149A(8):1786-8.PMID: 19610097 [PubMed - indexed for MEDLINE]Related articles

    4.

    Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.

    Faugère V, Tuffery-Giraud S, Hamel C, Claustres M.

    BMC Genet. 2003 Jan 7;4:1. Epub 2003 Jan 7.PMID: 12515581 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

    Fang S, Guo X, Jia X, Xiao X, Li S, Zhang Q.

    Mol Vis. 2008;14:1974-82. Epub 2008 Oct 30.PMID: 18978956 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.

    Lauronen L, Jalkanen R, Huttunen J, Carlsson E, Tuupanen S, Lindh S, Forsius H, Sankila EM, Alitalo T.

    Br J Ophthalmol. 2005 Jul;89(7):820-4.PMID: 15965158 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Eight previously unidentified mutations found in the OA1 ocular albinism gene.

    Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M.

    BMC Med Genet. 2006 Apr 28;7:41.PMID: 16646960 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    OA1 mutations and deletions in X-linked ocular albinism.

    Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Pillers DA, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG.

    Am J Hum Genet. 1998 Apr;62(4):800-9.PMID: 9529334 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.

    Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A.

    Hum Mol Genet. 2000 Nov 22;9(19):2781-8.PMID: 11092754 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis.

    Rudolph G, Meindl A, Bechmann M, Schworm HD, Achatz H, Boergen KP, Kampik A, Berninger T, Meitinger T.

    Graefes Arch Clin Exp Ophthalmol. 2001 Mar;239(3):167-72.PMID: 11405065 [PubMed - indexed for MEDLINE]Related articles

    11.

    Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.

    Sallmann GB, Bray PJ, Rogers S, Quince A, Cotton RG, Carden SM.

    Ophthalmic Genet. 2006 Jun;27(2):43-9.PMID: 16754205 [PubMed - indexed for MEDLINE]Related articles

    12.

    A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.

    Peng Y, Meng Y, Wang Z, Qin M, Li X, Dian Y, Huang S.

    Mol Vis. 2009;15:810-4. Epub 2009 Apr 22.PMID: 19390656 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Identification of two novel mutations in families with X-linked ocular albinism.

    Iannaccone A, Gallaher KT, Buchholz J, Jennings BJ, Neitz M, Sidjanin DJ.

    Mol Vis. 2007 Oct 2;13:1856-61.PMID: 17960122 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Mutational analysis of the OA1 gene in ocular albinism.

    Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M.

    Ophthalmic Genet. 2003 Sep;24(3):167-73.PMID: 12868035 [PubMed - indexed for MEDLINE]Related articles

    15.

    Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

    Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

    Mol Vis. 2008 Aug 25;14:1549-58.PMID: 18728755 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

    Micale L, Augello B, Fusco C, Turturo MG, Granatiero M, Piemontese MR, Zelante L, Cecconi A, Merla G.

    Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31.PMID: 19604113 [PubMed - indexed for MEDLINE]Related articles

    17.

    New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.

    Oetting WS.

    Hum Mutat. 2002 Feb;19(2):85-92. Review.PMID: 11793467 [PubMed - indexed for MEDLINE]Related articles

    18.

    Identification of a novel mutation in a Chinese family with X-linked ocular albinism.

    Wang Y, Guo X, Wei A, Zhu W, Li W, Lian S.

    Eur J Ophthalmol. 2009 Jan-Feb;19(1):124-8.PMID: 19123159 [PubMed - indexed for MEDLINE]Related articles

    19.

    Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.

    Zhou P, Wang Z, Zhang J, Hu L, Kong X.

    Mol Vis. 2008 May 30;14:1015-9.PMID: 18523664 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

    Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AA, Charles SJ, Yates JR, Meindl A, et al.

    Hum Mol Genet. 1995 Dec;4(12):2319-25.PMID: 8634705 [PubMed - indexed for MEDLINE]Related articles

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