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Journal Abstract Search

251 related items for PubMed ID: 10790207

  • 21. 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]

  • 22. Genotype-phenotype correlation in Italian children with Wilson's disease.
    Nicastro E, Loudianos G, Zancan L, D'Antiga L, Maggiore G, Marcellini M, Barbera C, Marazzi MG, Francavilla R, Pastore M, Vajro P, D'Ambrosi M, Vegnente A, Ranucci G, Iorio R.
    J Hepatol; 2009 Mar 14; 50(3):555-61. PubMed ID: 19118915
    [Abstract] [Full Text] [Related]

  • 23. A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure.
    Okada T, Morise T, Takeda Y, Mabuchi H.
    J Gastroenterol; 2000 Mar 14; 35(4):278-83. PubMed ID: 10777157
    [Abstract] [Full Text] [Related]

  • 24. 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 Mar 14; 14(4):304-11. PubMed ID: 10502777
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. 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 14; 70(5):457-62. PubMed ID: 23789284
    [Abstract] [Full Text] [Related]

  • 27. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
    Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH.
    Hum Mutat; 1998 May 14; 11(4):275-8. PubMed ID: 9554743
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. [Phenotype and genotype analysis of 55 children patients with Wilson's disease].
    Zhou XY, Yin HX, Wang CL, Liu ZF, Zheng BX, Jin Y.
    Zhonghua Gan Zang Bing Za Zhi; 2020 Jul 20; 28(7):603-607. PubMed ID: 32791797
    [Abstract] [Full Text] [Related]

  • 30. 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 20; 13(3):CS38-40. PubMed ID: 17325640
    [Abstract] [Full Text] [Related]

  • 31. 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 20; 64(6):479-84. PubMed ID: 14986826
    [Abstract] [Full Text] [Related]

  • 32. 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 20; 136(Pt 5):1476-87. PubMed ID: 23518715
    [Abstract] [Full Text] [Related]

  • 33. High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.
    Okada T, Shiono Y, Kaneko Y, Miwa K, Hasatani K, Hayashi Y, Mibayashi H, Aoyagi H, Tsuji S, Yoshimitsu M, Hayashi H, Yamagishi M.
    Scand J Gastroenterol; 2010 Oct 20; 45(10):1232-7. PubMed ID: 20491539
    [Abstract] [Full Text] [Related]

  • 34. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
    Yuan ZF, Wu W, Yu YL, Shen J, Mao SS, Gao F, Xia ZZ.
    World J Pediatr; 2015 Aug 20; 11(3):255-60. PubMed ID: 26253413
    [Abstract] [Full Text] [Related]

  • 35. [A study of Wilson's disease gene encoded products and gene mutations].
    Hou G, Liang X, Chen R, Yang C, Huang F, Yan Z, Xu P, Wang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Jun 20; 18(3):165-8. PubMed ID: 11402441
    [Abstract] [Full Text] [Related]

  • 36. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR.
    Xu P, Liang X, Jankovic J, Le W.
    Arch Neurol; 2001 Nov 20; 58(11):1879-82. PubMed ID: 11708998
    [Abstract] [Full Text] [Related]

  • 37. A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
    Dastsooz H, Dehghani SM, Imanieh MH, Haghighat M, Moini M, Fardaei M.
    Gene; 2013 Feb 01; 514(1):48-53. PubMed ID: 23159873
    [Abstract] [Full Text] [Related]

  • 38. Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
    Barada K, El Haddad A, Katerji M, Jomaa M, Usta J.
    World J Gastroenterol; 2017 Sep 28; 23(36):6715-6725. PubMed ID: 29085216
    [Abstract] [Full Text] [Related]

  • 39. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
    Merle U, Weiss KH, Eisenbach C, Tuma S, Ferenci P, Stremmel W.
    BMC Gastroenterol; 2010 Jan 18; 10():8. PubMed ID: 20082719
    [Abstract] [Full Text] [Related]

  • 40. Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
    Todorov T, Balakrishnan P, Savov A, Socha P, Schmidt HH.
    PLoS One; 2016 Jan 18; 11(12):e0168372. PubMed ID: 27992490
    [Abstract] [Full Text] [Related]

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