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229 related items for PubMed ID: 14635119

  • 1. NDP gene mutations in 14 French families with Norrie disease.
    Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP.
    Hum Mutat; 2003 Dec; 22(6):499. PubMed ID: 14635119
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  • 2. 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 02; 11():705-12. PubMed ID: 16163268
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  • 3. Molecular analysis of the NDP gene in two families with Norrie disease.
    Rivera-Vega MR, Chiñas-Lopez S, Vaca AL, Arenas-Sordo ML, Kofman-Alfaro S, Messina-Baas O, Cuevas-Covarrubias SA.
    Acta Ophthalmol Scand; 2005 Apr 02; 83(2):210-4. PubMed ID: 15799735
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  • 4. Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
    Staropoli JF, Xin W, Sims KB.
    J Med Genet; 2010 Nov 02; 47(11):786-90. PubMed ID: 20679667
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  • 5. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
    Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW.
    Nat Genet; 1993 Oct 02; 5(2):180-3. PubMed ID: 8252044
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  • 8. Clinical and genetic analysis of Indian patients with NDP-related retinopathies.
    Sudha D, Ganapathy A, Mohan P, Mannan AU, Krishna S, Neriyanuri S, Swaminathan M, Rishi P, Chidambaram S, Arunachalam JP.
    Int Ophthalmol; 2018 Jun 02; 38(3):1251-1260. PubMed ID: 28602015
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  • 9. Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
    Wu WC, Drenser K, Trese M, Capone A, Dailey W.
    Arch Ophthalmol; 2007 Feb 02; 125(2):225-30. PubMed ID: 17296899
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  • 11. Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.
    Shastry BS.
    Biochem Biophys Res Commun; 1998 May 08; 246(1):35-8. PubMed ID: 9618247
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  • 16. A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.
    Parzefall T, Lucas T, Ritter M, Ludwig M, Ramsebner R, Frohne A, Schöfer C, Hengstschläger M, Frei K.
    Audiol Neurootol; 2014 May 08; 19(3):203-9. PubMed ID: 24801666
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