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359 related items for PubMed ID: 21796144

  • 1. Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
    Wang LH, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.
    J Hum Genet; 2011 Sep; 56(9):660-5. PubMed ID: 21796144
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 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 01; 21(2):245-8. PubMed ID: 16211609
    [Abstract] [Full Text] [Related]

  • 4. Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
    Liu Y, Zhou H, Guo H, Bai Y.
    Arch Med Res; 2015 Feb 01; 46(2):164-9. PubMed ID: 25704634
    [Abstract] [Full Text] [Related]

  • 5. [Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease].
    Xia JK, Ning HF, Luo X, Zeng Y, Chen YB, Kong XD.
    Zhonghua Gan Zang Bing Za Zhi; 2024 Jun 20; 32(6):558-562. PubMed ID: 38964899
    [Abstract] [Full Text] [Related]

  • 6. [Genotype and phenotype correlation in Chinese patients with Wilson's Disease].
    Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH.
    Zhonghua Er Ke Za Zhi; 2003 Jan 20; 41(1):35-8. PubMed ID: 14761325
    [Abstract] [Full Text] [Related]

  • 7. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.
    Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Chandy M, Stanley M, Selvi S, Kurian G, Chandy GM.
    Indian J Gastroenterol; 2006 Jan 20; 25(6):277-82. PubMed ID: 17264425
    [Abstract] [Full Text] [Related]

  • 8. Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
    Li XH, Lu Y, Ling Y, Fu QC, Xu J, Zang GQ, Zhou F, De-Min Y, Han Y, Zhang DH, Gong QM, Lu ZM, Kong XF, Wang JS, Zhang XX.
    BMC Med Genet; 2011 Jan 11; 12():6. PubMed ID: 21219664
    [Abstract] [Full Text] [Related]

  • 9. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
    Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H.
    Hum Mutat; 2000 Jan 11; 15(5):454-62. PubMed ID: 10790207
    [Abstract] [Full Text] [Related]

  • 10. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
    Li M, Ma J, Wang W, Yang X, Luo K.
    BMC Gastroenterol; 2021 Sep 01; 21(1):339. PubMed ID: 34470610
    [Abstract] [Full Text] [Related]

  • 11. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
    Lee BH, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, Park JY, Kim GH, Choi JH, Kim KM, Yoo HW.
    Liver Int; 2011 Jul 01; 31(6):831-9. PubMed ID: 21645214
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 68(6):524-32. PubMed ID: 16283883
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 14. Six novel ATP7B mutations in Thai patients with Wilson disease.
    Panichareon B, Taweechue K, Thongnoppakhun W, Aksornworanart M, Pithukpakorn M, Yenchitsomanus PT, Limwongse C, Limjindaporn T.
    Eur J Med Genet; 2011 Sep 23; 54(2):103-7. PubMed ID: 21034864
    [Abstract] [Full Text] [Related]

  • 15. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
    Gu YH, Kodama H, Du SL, Gu QJ, Sun HJ, Ushijima H.
    Clin Genet; 2003 Dec 23; 64(6):479-84. PubMed ID: 14986826
    [Abstract] [Full Text] [Related]

  • 16. Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
    Ye S, Gong L, Shui QX, Zhou LF.
    World J Gastroenterol; 2007 Oct 14; 13(38):5147-50. PubMed ID: 17876883
    [Abstract] [Full Text] [Related]

  • 17. Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
    Gu S, Yang H, Qi Y, Deng X, Zhang L, Guo Y, Huang Q, Li J, Shi X, Song Z, Deng H.
    PLoS One; 2013 Oct 14; 8(7):e66526. PubMed ID: 23843956
    [Abstract] [Full Text] [Related]

  • 18. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
    Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, Naginiene R, Schmidt H, Kupcinskas L.
    World J Gastroenterol; 2008 Oct 14; 14(38):5876-9. PubMed ID: 18855987
    [Abstract] [Full Text] [Related]

  • 19. 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 14; 26(4):147-50. PubMed ID: 22484412
    [Abstract] [Full Text] [Related]

  • 20. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
    Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, Bao KR, Yu LH, Wang MX.
    World J Gastroenterol; 2004 Feb 15; 10(4):590-3. PubMed ID: 14966923
    [Abstract] [Full Text] [Related]

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