Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 175

1.

Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.

Hofer H, Willheim-Polli C, Knoflach P, Gabriel C, Vogel W, Trauner M, Müller T, Ferenci P.

J Hum Genet. 2012 Sep;57(9):564-7. doi: 10.1038/jhg.2012.65. Epub 2012 Jul 5.

PMID:
22763723
2.

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.

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.

PMID:
16211609
4.

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
5.

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
6.

Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).

Seidel J, Caca K, Schwab SG, Berr F, Wildenauer DB, Mentzel HJ, Horn N, Kauf E.

Cell Mol Biol (Noisy-le-grand). 2001;47 Online Pub:OL149-57.

PMID:
11936861
7.

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.

Simsek Papur O, Akman SA, Cakmur R, Terzioglu O.

Eur J Med Genet. 2013 Apr;56(4):175-9. doi: 10.1016/j.ejmg.2013.01.003. Epub 2013 Jan 17.

PMID:
23333878
8.

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 1;514(1):48-53. doi: 10.1016/j.gene.2012.10.085. Epub 2012 Nov 13.

PMID:
23159873
9.

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
10.

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
11.

[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].

Folhoffer A, Horváth A, Hegedüs D, Firneisz G, Dunkel K, Willheim C, Ferenci P, Szönyi L, Abonyi M, Lakatos PL, Szalay F.

Orv Hetil. 2003 Dec 21;144(51):2509-15. Hungarian.

PMID:
14974157
12.

New novel mutation of the ATP7B gene in a family with Wilson disease.

Lee JY, Kim YH, Kim TW, Oh SY, Kim DS, Shin BS.

J Neurol Sci. 2012 Feb 15;313(1-2):129-31. doi: 10.1016/j.jns.2011.09.007. Epub 2011 Nov 8.

PMID:
22075048
13.

[Wilson disease: an update].

Seo JK.

Korean J Hepatol. 2006 Sep;12(3):333-63. Review. Korean.

14.

Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.

Barada K, El-Atrache M, El-Hajj II, Rida K, El-Hajjar J, Mahfoud Z, Usta J.

J Clin Gastroenterol. 2010 Jul;44(6):432-9. doi: 10.1097/MCG.0b013e3181ce5138.

PMID:
20485189
15.
16.

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.

17.

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
18.

Late-onset Wilson's disease.

Ferenci P, Członkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, Vogel W, Bruha R, Schmidt HT, Stremmel W.

Gastroenterology. 2007 Apr;132(4):1294-8. Epub 2007 Feb 25.

PMID:
17433323
19.

[A primer on Wilson disease for the general practitioner].

Hiroz P, Antonino A, Doerig C, Pache I, Moradpour D.

Rev Med Suisse. 2011 Sep 7;7(307):1690-2, 1694-5. French.

PMID:
21987877
20.

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 1;25(14):1075-80. doi: 10.1097/WNR.0000000000000216.

PMID:
25089800

Supplemental Content

Support Center