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Journal Abstract Search

723 related items for PubMed ID: 23518715

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  • 3. Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
    Loudianos G, Zappu A, Lepori MB, Incollu S, Dessì V, Mameli E, Garrucciu G, De Virgiliis S, Cao A.
    Dig Liver Dis; 2013 Apr; 45(4):342-5. PubMed ID: 23219664
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  • 5. Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
    Shimizu N, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T.
    Pediatr Int; 1999 Aug; 41(4):409-13. PubMed ID: 10453196
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  • 7. Genetics of Wilson's disease: a clinical perspective.
    Kumar SS, Kurian G, Eapen CE, Roberts EA.
    Indian J Gastroenterol; 2012 Dec; 31(6):285-93. PubMed ID: 22941676
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  • 8. Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
    Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi ZQ, Zhang Y, Wang N, Yu L, Xu JF, Wu ZY.
    Theranostics; 2016 Dec; 6(5):638-49. PubMed ID: 27022412
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  • 11. Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
    Wei Z, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.
    Neuroreport; 2014 Oct 01; 25(14):1075-80. PubMed ID: 25089800
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  • 12. Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
    Lepori MB, Zappu A, Incollu S, Dessì V, Mameli E, Demelia L, Nurchi AM, Gheorghe L, Maggiore G, Sciveres M, Leuzzi V, Indolfi G, Bonafé L, Casali C, Angeli P, Barone P, Cao A, Loudianos G.
    Mol Cell Probes; 2012 Aug 01; 26(4):147-50. PubMed ID: 22484412
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  • 14. 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 01; 70(5):457-62. PubMed ID: 23789284
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  • 16. 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 01; 21(2):245-8. PubMed ID: 16211609
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  • 18. 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 01; 21(2):181-5. PubMed ID: 22720308
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  • 20. Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography.
    Weirich G, Cabras AD, Serra S, Coni PP, Nurchi AM, Faa G, Höfler H.
    Prev Med; 2002 Sep 01; 35(3):278-84. PubMed ID: 12202071
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