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Journal Abstract Search

207 related items for PubMed ID: 23159873

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
    Leggio L, Malandrino N, Loudianos G, Abenavoli L, Lepori MB, Capristo E, De Virgiliis S, Gasbarrini G, Addolorato G.
    Dig Dis Sci; 2007 Oct; 52(10):2570-5. PubMed ID: 17410460
    [Abstract] [Full Text] [Related]

  • 23. The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.
    Dastsooz H, Dehghani SM, Fardaei M.
    Arch Iran Med; 2014 Nov; 17(11):755-8. PubMed ID: 25365615
    [Abstract] [Full Text] [Related]

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

  • 25. 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
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  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
    Kumar S, Thapa BR, Kaur G, Prasad R.
    Clin Genet; 2005 May; 67(5):443-5. PubMed ID: 15811015
    [No Abstract] [Full Text] [Related]

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  • 32. 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
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  • 34. Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
    Geng J, Wang J, Yao RE, Liu XQ, Fu QH.
    World J Pediatr; 2013 May; 9(2):158-62. PubMed ID: 23275100
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  • 35. Gene symbol: ATP7B. Disease: Wilson disease.
    Santhosh S, Eapen CE, Shaji RV, Kurian G, Chandy GM.
    Hum Genet; 2006 Apr; 119(3):362. PubMed ID: 17230654
    [No Abstract] [Full Text] [Related]

  • 36. Gene symbol: ATP7B. Disease: Wilson disease.
    Santosh S, Eapen CE, Shaji RV, Kurian G, Chandy GM.
    Hum Genet; 2006 Apr; 119(3):362. PubMed ID: 17230652
    [No Abstract] [Full Text] [Related]

  • 37. 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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  • 38. Wilson disease: high prevalence in a mountainous area of Crete.
    Dedoussis GV, Genschel J, Sialvera TE, Bochow B, Manolaki N, Manios Y, Tsafantakis E, Schmidt H.
    Ann Hum Genet; 2005 May 15; 69(Pt 3):268-74. PubMed ID: 15845031
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  • 39. [Molecular analysis of Wilson disease].
    Vrábelová S, Vánová P, Kopecková L, Trunecka P, Smolka V, Procházková D, Vejvalková S, Suláková A, Kupcová V, Bzdúch V, Kozák L.
    Cas Lek Cesk; 2002 Oct 11; 141(20):642-5. PubMed ID: 12515040
    [Abstract] [Full Text] [Related]

  • 40. Gene symbol: ATP7B. Disease: Wilson disease.
    Santhosh S, Eapen CE, Shaji RV, Kurian G, Chandy GM.
    Hum Genet; 2006 Apr 11; 119(3):361. PubMed ID: 17230650
    [No Abstract] [Full Text] [Related]

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