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    Results: 1 to 20 of 99

    1.

    Norrie disease and peripheral venous insufficiency.

    Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT.

    Br J Ophthalmol. 2004 Nov;88(11):1475. No abstract available. Erratum in: Br J Ophthalmol. 2005 May;89(5):645. PMID: 15489496 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    A novel missense Norrie disease mutation associated with a severe ocular phenotype.

    Khan AO, Shamsi FA, Al-Saif A, Kambouris M.

    J Pediatr Ophthalmol Strabismus. 2004 Nov-Dec;41(6):361-3.PMID: 15609522 [PubMed - indexed for MEDLINE]Related articles

    3.

    Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

    Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C.

    Mol Vis. 2005 Sep 2;11:705-12.PMID: 16163268 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.

    Rehm HL, Gutiérrez-Espeleta GA, Garcia R, Jiménez G, Khetarpal U, Priest JM, Sims KB, Keats BJ, Morton CC.

    Hum Mutat. 1997;9(5):402-8.PMID: 9143918 [PubMed - indexed for MEDLINE]Related articles

    5.

    Advanced bilateral persistent fetal vasculature associated with a novel mutation in the Norrie gene.

    Dhingra S, Shears DJ, Blake V, Stewart H, Patel CK.

    Br J Ophthalmol. 2006 Oct;90(10):1324-5. No abstract available. PMID: 16980647 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

    Kondo H, Qin M, Kusaka S, Tahira T, Hasebe H, Hayashi H, Uchio E, Hayashi K.

    Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1276-82.PMID: 17325173 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family.

    Hatsukawa Y, Nakao T, Yamagishi T, Okamoto N, Isashiki Y.

    Br J Ophthalmol. 2002 Dec;86(12):1452-3. No abstract available. PMID: 12446397 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Norrie disease in a family with a manifesting female carrier.

    Sims KB, Irvine AR, Good WV.

    Arch Ophthalmol. 1997 Apr;115(4):517-9.PMID: 9109762 [PubMed - indexed for MEDLINE]Related articles

    9.

    Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.

    Wu WC, Drenser K, Trese M, Capone A Jr, Dailey W.

    Arch Ophthalmol. 2007 Feb;125(2):225-30.PMID: 17296899 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.

    Fuchs S, Kellner U, Wedemann H, Gal A.

    Hum Mutat. 1995;6(3):257-9. No abstract available. PMID: 8535448 [PubMed - indexed for MEDLINE]Related articles

    11.

    Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1.

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

    J Hum Genet. 2007;52(5):469-72. Epub 2007 Mar 10.PMID: 17351708 [PubMed - indexed for MEDLINE]Related articles

    12.

    Clinical phenotype of DFN2, DFN4 and DFN6.

    Pfister MH, Lalwani AK.

    Adv Otorhinolaryngol. 2002;61:168-71. No abstract available. PMID: 12408081 [PubMed - indexed for MEDLINE]Related articles

    13.

    Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

    Hildebrand MS, de Silva MG, Tan TY, Rose E, Nishimura C, Tolmachova T, Hulett JM, White SM, Silver J, Bahlo M, Smith RJ, Dahl HH.

    Am J Med Genet A. 2007 Nov 1;143A(21):2564-75.PMID: 17935254 [PubMed - indexed for MEDLINE]Related articles

    14.

    Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

    Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G.

    Invest Ophthalmol Vis Sci. 2005 Jan;46(1):17-23.PMID: 15623749 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.

    Khan AO, Aldahmesh MA, Meyer B.

    Ophthalmology. 2008 Apr;115(4):730-3.PMID: 18387409 [PubMed - indexed for MEDLINE]Related articles

    16.

    X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update.

    Stewart DM, Tian L, Notarangelo LD, Nelson DL.

    Immunol Res. 2008;40(3):262-70. Review.PMID: 18180883 [PubMed - indexed for MEDLINE]Related articles

    17.

    HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.

    Apoil PA, Kuhlein E, Robert A, Rubie H, Blancher A.

    Immunogenetics. 2007 Jan;59(1):17-23. Epub 2006 Dec 5.PMID: 17146684 [PubMed - indexed for MEDLINE]Related articles

    18.

    A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

    Kim HJ, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.

    Neurology. 2005 Jun 14;64(11):1964-7.PMID: 15955956 [PubMed - indexed for MEDLINE]Related articles

    19.

    Duplicate report crossing over in Norrie disease family.

    Ngo J, Spence MA, Cortessis V, Bateman JB, Sparkes RS.

    Am J Med Genet. 1989 Jun;33(2):286. No abstract available. PMID: 2764042 [PubMed - indexed for MEDLINE]Related articles

    20.

    Somatic and gonadal mosaicism in X-linked retinitis pigmentosa.

    Jin ZB, Gu F, Matsuda H, Yukawa N, Ma X, Nao-i N.

    Am J Med Genet A. 2007 Nov 1;143A(21):2544-8.PMID: 17935240 [PubMed - indexed for MEDLINE]Related articles

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