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Journal Abstract Search

319 related items for PubMed ID: 22221592

  • 1. Apolipoprotein E gene (APOE) genotype in Wilson's disease: impact on clinical presentation.
    Litwin T, Gromadzka G, Członkowska A.
    Parkinsonism Relat Disord; 2012 May; 18(4):367-9. PubMed ID: 22221592
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  • 2. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease.
    Schiefermeier M, Kollegger H, Madl C, Polli C, Oder W, Kühn H, Berr F, Ferenci P.
    Brain; 2000 Mar; 123 Pt 3():585-90. PubMed ID: 10686180
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  • 3. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
    Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.
    Mov Disord; 2006 Feb; 21(2):245-8. PubMed ID: 16211609
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  • 4. Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L.
    Gu YH, Kodama H, Du SL.
    Brain Dev; 2005 Dec; 27(8):551-3. PubMed ID: 16310588
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  • 5. Late-onset Wilson's disease.
    Ferenci P, Członkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, Vogel W, Bruha R, Schmidt HT, Stremmel W.
    Gastroenterology; 2007 Apr; 132(4):1294-8. PubMed ID: 17433323
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  • 6. Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
    Tomić A, Dobricić V, Novaković I, Svetel M, Pekmezović T, Kresojević N, Potrebić A, Kostić VS.
    Vojnosanit Pregl; 2013 May; 70(5):457-62. PubMed ID: 23789284
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  • 7. [Wilson disease - factors affecting clinical presentation].
    Litwin T, Członkowska A.
    Neurol Neurochir Pol; 2013 May; 47(2):161-9. PubMed ID: 23650006
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  • 9. The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.
    Iacob R, Iacob S, Nastase A, Vagu C, Ene AM, Constantinescu A, Anghel D, Banica C, Paslaru L, Coriu D, Dima S, Gheorghe C, Ionica E, Gheorghe L.
    J Gastrointestin Liver Dis; 2012 Jun; 21(2):181-5. PubMed ID: 22720308
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  • 10. Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
    Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Finny P, Thomas N, Chandy M, Kurian G, Chandy GM.
    World J Gastroenterol; 2008 Aug 07; 14(29):4672-6. PubMed ID: 18698682
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  • 13. Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
    Zhang DF, Teng JF.
    Genet Mol Res; 2016 Sep 23; 15(3):. PubMed ID: 27706781
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  • 14. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
    Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.
    Clin Genet; 2005 Dec 23; 68(6):524-32. PubMed ID: 16283883
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  • 16. Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient.
    Kok KF, Hoevenaars B, Waanders E, Drenth JP.
    Neth J Med; 2008 Sep 23; 66(8):348-50. PubMed ID: 18809983
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  • 17. Genotype correlation with fine motor symptoms in patients with Wilson's disease.
    Hermann W, Caca K, Eggers B, Villmann T, Clark D, Berr F, Wagner A.
    Eur Neurol; 2002 Sep 23; 48(2):97-101. PubMed ID: 12186999
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  • 20. Late onset fulminant Wilson's disease: a case report and review of the literature.
    Weitzman E, Pappo O, Weiss P, Frydman M, Haviv-Yadid Y, Ben Ari Z.
    World J Gastroenterol; 2014 Dec 14; 20(46):17656-60. PubMed ID: 25516681
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