BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

422 related articles for article (PubMed ID: 9311736)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Haplotype and mutation analysis in Japanese patients with Wilson disease.
    Nanji MS; Nguyen VT; Kawasoe JH; Inui K; Endo F; Nakajima T; Anezaki T; Cox DW
    Am J Hum Genet; 1997 Jun; 60(6):1423-9. PubMed ID: 9199563
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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; 41(1):35-8. PubMed ID: 14761325
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 21(1):339. PubMed ID: 34470610
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 15(5):454-62. PubMed ID: 10790207
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 86(1-2):277-85. PubMed ID: 15967699
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.
    Sundaresan S; Eapen CE; Shaji RV; Chandy M; Kurian G; Chandy G
    Med Sci Monit; 2007 Mar; 13(3):CS38-40. PubMed ID: 17325640
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
    Seidel J; Caca K; Schwab SG; Berr F; Wildenauer DB; Mentzel HJ; Horn N; Kauf E
    Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL149-57. PubMed ID: 11936861
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [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; 68(6):524-32. PubMed ID: 16283883
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 108(1):23-8. PubMed ID: 11857545
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 7(2):107-12. PubMed ID: 12885331
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A study of Wilson disease mutations in Britain.
    Curtis D; Durkie M; Balac (Morris) P; Sheard D; Goodeve A; Peake I; Quarrell O; Tanner S
    Hum Mutat; 1999; 14(4):304-11. PubMed ID: 10502777
    [TBL] [Abstract][Full Text] [Related]  

  • 16. New novel mutation of the ATP7B gene in a family with Wilson disease.
    Lee JY; Kim YH; Kim TW; Oh SY; Kim DS; Shin BS
    J Neurol Sci; 2012 Feb; 313(1-2):129-31. PubMed ID: 22075048
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Forbes JR; Cox DW
    Am J Hum Genet; 1998 Dec; 63(6):1663-74. PubMed ID: 9837819
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test.
    Poláková H; Katrincsáková B; Minárik G; Feráková E; Ficek A; Baldovic M; Kádasi L
    Gen Physiol Biophys; 2007 Jun; 26(2):91-6. PubMed ID: 17660582
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Wilson disease: an update].
    Seo JK
    Korean J Hepatol; 2006 Sep; 12(3):333-63. PubMed ID: 16998287
    [TBL] [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; 10(4):590-3. PubMed ID: 14966923
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.