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Journal Abstract Search

369 related items for PubMed ID: 14966923

  • 1. 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]

  • 2. [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 15; 41(1):35-8. PubMed ID: 14761325
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. [Rapid detection of common ATP7B mutations in Wilson disease by high resolution melting analysis].
    Zhao X, Liu Y, Huang S, Meng Y, Sun M, Yang W, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Oct 01; 25(5):515-9. PubMed ID: 18841562
    [Abstract] [Full Text] [Related]

  • 5. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
    Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH.
    Hum Mutat; 2004 Apr 01; 23(4):398. PubMed ID: 15024742
    [Abstract] [Full Text] [Related]

  • 6. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
    Yoo HW.
    Genet Med; 2002 Apr 01; 4(6 Suppl):43S-48S. PubMed ID: 12544487
    [Abstract] [Full Text] [Related]

  • 7. ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
    Ljubić H, Kalauz M, Telarović S, Ferenci P, Ostojić R, Noli MC, Lepori MB, Hrstić I, Vuković J, Premužić M, Radić D, Ravić KG, Sertić J, Merkler A, Barišić AA, Loudianos G, Vucelić B.
    Genet Test Mol Biomarkers; 2016 Mar 01; 20(3):112-7. PubMed ID: 26799313
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
    Mukherjee S, Dutta S, Majumdar S, Biswas T, Jaiswal P, Sengupta M, Bhattacharya A, Gangopadhyay PK, Bavdekar A, Das SK, Ray K.
    Parkinsonism Relat Disord; 2014 Jan 01; 20(1):75-81. PubMed ID: 24094725
    [Abstract] [Full Text] [Related]

  • 10. 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 Jan 01; 54(2):103-7. PubMed ID: 21034864
    [Abstract] [Full Text] [Related]

  • 11. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
    Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.
    Am J Hum Genet; 1997 Aug 01; 61(2):317-28. PubMed ID: 9311736
    [Abstract] [Full Text] [Related]

  • 12. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.
    Turk J Gastroenterol; 2015 Sep 01; 26(5):397-403. PubMed ID: 26215059
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
    Li K, Zhang WM, Lin S, Wen L, Wang ZF, Xie D, Wei M, Qiu ZQ, Dai Y, Lin MC, Kung HF, Yao FX.
    J Hum Genet; 2013 Feb 01; 58(2):67-72. PubMed ID: 23235335
    [Abstract] [Full Text] [Related]

  • 15. Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
    Keandaungjuntr J, Busabaratana M, Kositchaiwat C, Sura T, Pulkes T.
    J Med Assoc Thai; 2011 Oct 01; 94(10):1184-8. PubMed ID: 22145502
    [Abstract] [Full Text] [Related]

  • 16. Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
    Zhang S, Yang W, Li X, Pei P, Dong T, Yang Y, Zhang J.
    Transl Neurodegener; 2022 Feb 28; 11(1):13. PubMed ID: 35220961
    [Abstract] [Full Text] [Related]

  • 17. Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
    Chandhok G, Horvath J, Aggarwal A, Bhatt M, Zibert A, Schmidt HH.
    World J Gastroenterol; 2016 Apr 28; 22(16):4109-19. PubMed ID: 27122662
    [Abstract] [Full Text] [Related]

  • 18. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
    Loudianos G, Kostic V, Solinas P, Lovicu M, Dessì V, Svetel M, Major T, Cao A.
    Genet Test; 2003 Apr 28; 7(2):107-12. PubMed ID: 12885331
    [Abstract] [Full Text] [Related]

  • 19. Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
    El-Mougy FA, Sharaf SA, Elsharkawy MM, Mandour IA, El-Essawy RA, Eldin AM, Helmy HM, Soliman DH, Selim LH, Sharafeldin HM, Mogahed EA, El-Karaksy HM.
    Arab J Gastroenterol; 2014 Apr 28; 15(3-4):114-8. PubMed ID: 25465132
    [Abstract] [Full Text] [Related]

  • 20. 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]

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