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Journal Abstract Search

642 related items for PubMed ID: 15024742

  • 1. 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; 23(4):398. PubMed ID: 15024742
    [Abstract] [Full Text] [Related]

  • 2. From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia.
    Krumina A, Keiss J, Sondore V, Chernushenko A, Cernevska G, Zarina A, Micule I, Piekuse L, Kreile M, Lace B, Krumina Z, Rozentale B.
    Genetika; 2008 Oct; 44(10):1379-84. PubMed ID: 19062534
    [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; 21(2):245-8. PubMed ID: 16211609
    [Abstract] [Full Text] [Related]

  • 4. 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 Feb; 15(3-4):114-8. PubMed ID: 25465132
    [Abstract] [Full Text] [Related]

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

  • 6. 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; 20(3):112-7. PubMed ID: 26799313
    [Abstract] [Full Text] [Related]

  • 7. 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; 61(2):317-28. PubMed ID: 9311736
    [Abstract] [Full Text] [Related]

  • 8. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
    Vrabelova S, Letocha O, Borsky M, Kozak L.
    Mol Genet Metab; 2005 Aug; 86(1-2):277-85. PubMed ID: 15967699
    [Abstract] [Full Text] [Related]

  • 9. Common mutations of ATP7B in Wilson disease patients from Hungary.
    Firneisz G, Lakatos PL, Szalay F, Polli C, Glant TT, Ferenci P.
    Am J Med Genet; 2002 Feb 15; 108(1):23-8. PubMed ID: 11857545
    [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. [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 01; 41(1):35-8. PubMed ID: 14761325
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
    Aggarwal A, Chandhok G, Todorov T, Parekh S, Tilve S, Zibert A, Bhatt M, Schmidt HH.
    Ann Hum Genet; 2013 Jul 01; 77(4):299-307. PubMed ID: 23551039
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. 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 Feb 15; 7(2):107-12. PubMed ID: 12885331
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 20(1):75-81. PubMed ID: 24094725
    [Abstract] [Full Text] [Related]

  • 18. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
    Gupta A, Aikath D, Neogi R, Datta S, Basu K, Maity B, Trivedi R, Ray J, Das SK, Gangopadhyay PK, Ray K.
    Hum Genet; 2005 Oct 15; 118(1):49-57. PubMed ID: 16133174
    [Abstract] [Full Text] [Related]

  • 19. Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
    Bem RS, Raskin S, Muzzillo DA, Deguti MM, Cançado EL, Araújo TF, Nakhle MC, Barbosa ER, Munhoz RP, Teive HA.
    Arq Neuropsiquiatr; 2013 Aug 15; 71(8):503-7. PubMed ID: 23982005
    [Abstract] [Full Text] [Related]

  • 20. Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
    Guggilla SR, Senagari JR, Rao PN, Madireddi S.
    Gene; 2015 Sep 10; 569(1):83-7. PubMed ID: 25982861
    [Abstract] [Full Text] [Related]

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