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Items: 1 to 20 of 215

1.

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;26(4):147-50. doi: 10.1016/j.mcp.2012.03.007. Epub 2012 Mar 29.

PMID:
22484412
2.

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.

PMID:
16211609
3.

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.

4.

Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

Lepori MB, Lovicu M, Dessi V, Zappu A, Incollu S, Zancan L, Giacchino R, Iorio R, Vajro P, Maggiore G, Marcellini M, Barbera C, Pellecchia MT, Simonetti R, Kostic V, Farci AM, Solinas A, De Virgiliis S, Cao A, Loudianos G.

Genet Test. 2007 Fall;11(3):328-32.

PMID:
17949296
5.

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.

PMID:
16283883
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;14(38):5876-9.

7.

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.

PMID:
15024742
8.

Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.

Gu S, Yang H, Qi Y, Deng X, Zhang L, Guo Y, Huang Q, Li J, Shi X, Song Z, Deng H.

PLoS One. 2013 Jul 2;8(7):e66526. doi: 10.1371/journal.pone.0066526. Print 2013.

9.

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.

PMID:
11857545
10.

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.

PMID:
23789284
11.

Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.

Folhoffer A, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.

Eur J Gastroenterol Hepatol. 2007 Feb;19(2):105-11.

PMID:
17272994
12.

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 Sep-Oct;86(1-2):277-85. Epub 2005 Jun 20.

PMID:
15967699
13.

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 Nov-Dec;25(6):277-82.

PMID:
17264425
14.

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;68(1):61-8.

PMID:
15952988
15.

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.

PMID:
19062534
16.
17.

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.

PMID:
17660582
18.

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.

PMID:
10790207
19.

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.

Caca K, Ferenci P, Kühn HJ, Polli C, Willgerodt H, Kunath B, Hermann W, Mössner J, Berr F.

J Hepatol. 2001 Nov;35(5):575-81.

PMID:
11690702
20.

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

Wang LH, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.

J Hum Genet. 2011 Sep;56(9):660-5. doi: 10.1038/jhg.2011.76. Epub 2011 Jul 28.

PMID:
21796144

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