BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

241 related articles for article (PubMed ID: 23982005)

  • 1. 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; 71(8):503-7. PubMed ID: 23982005
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

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

  • 4. Neurological manifestations and ATP7B mutations in Wilson's disease.
    Machado AA; Deguti MM; Genschel J; Cançado EL; Bochow B; Schmidt H; Barbosa ER
    Parkinsonism Relat Disord; 2008; 14(3):246-9. PubMed ID: 17897870
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 25(14):1075-80. PubMed ID: 25089800
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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(38):5876-9. PubMed ID: 18855987
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 46(2):164-9. PubMed ID: 25704634
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 25(6):277-82. PubMed ID: 17264425
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 31(6):831-9. PubMed ID: 21645214
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 15(3):. PubMed ID: 27706781
    [TBL] [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; 41(1):35-8. PubMed ID: 14761325
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
    Santhosh S; Shaji RV; Eapen CE; Jayanthi V; Malathi S; Finny P; Thomas N; Chandy M; Kurian G; Chandy GM
    World J Gastroenterol; 2008 Aug; 14(29):4672-6. PubMed ID: 18698682
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 70(5):457-62. PubMed ID: 23789284
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A genetic study of Wilson's disease in the United Kingdom.
    Coffey AJ; Durkie M; Hague S; McLay K; Emmerson J; Lo C; Klaffke S; Joyce CJ; Dhawan A; Hadzic N; Mieli-Vergani G; Kirk R; Elizabeth Allen K; Nicholl D; Wong S; Griffiths W; Smithson S; Giffin N; Taha A; Connolly S; Gillett GT; Tanner S; Bonham J; Sharrack B; Palotie A; Rattray M; Dalton A; Bandmann O
    Brain; 2013 May; 136(Pt 5):1476-87. PubMed ID: 23518715
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 21(2):181-5. PubMed ID: 22720308
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
    Lu CX; Qing Lin ; Huang WQ; Tzeng CM
    Eur J Med Genet; 2014 Sep; 57(9):498-502. PubMed ID: 24878384
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
    Zong YN; Kong XD
    Genet Mol Res; 2015 Dec; 14(4):18764-70. PubMed ID: 26782526
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.