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Items: 1 to 20 of 167

1.

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
2.

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
3.

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Abdelghaffar TY, Elsayed SM, Elsobky E, Bochow B, Büttner J, Schmidt H.

J Hum Genet. 2008;53(8):681-7. doi: 10.1007/s10038-008-0298-7. Epub 2008 May 16.

PMID:
18483695
4.

Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.

Keandaungjuntr J, Busabaratana M, Kositchaiwat C, Sura T, Pulkes T.

J Med Assoc Thai. 2011 Oct;94(10):1184-8.

PMID:
22145502
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.

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
7.

Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

Gupta A, Chattopadhyay I, Dey S, Nasipuri P, Das SK, Gangopadhyay PK, Ray K.

Cell Mol Neurobiol. 2007 Dec;27(8):1023-33. Epub 2007 Sep 2.

PMID:
17823867
8.

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
9.

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
10.

Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.

Wan L, Tsai CH, Hsu CM, Huang CC, Yang CC, Liao CC, Wu CC, Hsu YA, Lee CC, Liu SC, Lin WD, Tsai FJ.

Hepatology. 2010 Nov;52(5):1662-70. doi: 10.1002/hep.23865.

PMID:
20931554
11.

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;31(6):831-9. doi: 10.1111/j.1478-3231.2011.02503.x. Epub 2011 Mar 13. Erratum in: Liver Int. 2011 Sep;31(8):1242.

PMID:
21645214
12.

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.

13.

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
14.

Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.

Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K.

Hum Mutat. 1998;Suppl 1:S320-2. No abstract available.

PMID:
9452121
15.

Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.

Guggilla SR, Senagari JR, Rao PN, Madireddi S.

Gene. 2015 Sep 10;569(1):83-7. doi: 10.1016/j.gene.2015.05.031. Epub 2015 May 14.

PMID:
25982861
16.

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
17.

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
18.

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. doi: 10.1186/1471-230X-10-8.

19.

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. Epub 2007 Apr 5.

PMID:
17410460
20.

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.

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