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Journal Abstract Search

303 related items for PubMed ID: 20124325

  • 21. Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.
    Peña-Quintana L, García-Luzardo MR, García-Villarreal L, Arias-Santos MD, Garay-Sánchez P, Santana A, González-Santana D, Ramos-Varela JC, Rial-González R, Tugores A.
    J Pediatr Gastroenterol Nutr; 2012 Jan; 54(1):48-54. PubMed ID: 21832955
    [Abstract] [Full Text] [Related]

  • 22. 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; 77(4):299-307. PubMed ID: 23551039
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  • 23. 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 Jul; 15(3-4):114-8. PubMed ID: 25465132
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  • 26. 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
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  • 28. 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; 64(6):479-84. PubMed ID: 14986826
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  • 29. 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 23; 15(3):. PubMed ID: 27706781
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  • 30. Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
    Margarit E, Bach V, Gómez D, Bruguera M, Jara P, Queralt R, Ballesta F.
    Clin Genet; 2005 Jul 23; 68(1):61-8. PubMed ID: 15952988
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  • 32. 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 Jul 23; 7(2):107-12. PubMed ID: 12885331
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  • 33. 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 23; 57(9):498-502. PubMed ID: 24878384
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  • 34. 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
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  • 35. 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 01; 25(14):1075-80. PubMed ID: 25089800
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  • 36. Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation.
    Lirong J, Jianjun J, Hua Z, Guoqiang F, Yuhao Z, Xiaoli P, Xiaomin Z, Yuwen Z, Yu M, Jie C, Jihong D, Yueshi M, Zhenyao M, Chunjiu Z.
    Eur J Neurol; 2009 Oct 01; 16(10):1130-7. PubMed ID: 19572946
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  • 37. Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice.
    Merle U, Tuma S, Herrmann T, Muntean V, Volkmann M, Gehrke SG, Stremmel W.
    J Gastroenterol Hepatol; 2010 Jun 01; 25(6):1144-50. PubMed ID: 20594231
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  • 38. 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 01; 31(6):831-9. PubMed ID: 21645214
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  • 39. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Forbes JR, Cox DW.
    Am J Hum Genet; 1998 Dec 01; 63(6):1663-74. PubMed ID: 9837819
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  • 40. 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
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