Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 152

1.

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;57(9):498-502. doi: 10.1016/j.ejmg.2014.04.016. Epub 2014 May 28.

PMID:
24878384
2.

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
3.

Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.

Liu Y, Zhou H, Guo H, Bai Y.

Arch Med Res. 2015 Feb;46(2):164-9. doi: 10.1016/j.arcmed.2015.02.001. Epub 2015 Feb 19.

PMID:
25704634
4.

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
5.

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
6.

Six novel ATP7B mutations in Thai patients with Wilson disease.

Panichareon B, Taweechue K, Thongnoppakhun W, Aksornworanart M, Pithukpakorn M, Yenchitsomanus PT, Limwongse C, Limjindaporn T.

Eur J Med Genet. 2011 Mar-Apr;54(2):103-7. doi: 10.1016/j.ejmg.2010.10.008. Epub 2010 Oct 27.

PMID:
21034864
7.
8.

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
9.

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
10.

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
11.

[Genotype and phenotype correlation in Chinese patients with Wilson's Disease].

Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH.

Zhonghua Er Ke Za Zhi. 2003 Jan;41(1):35-8. Chinese.

PMID:
14761325
12.

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

Li XH, Lu Y, Ling Y, Fu QC, Xu J, Zang GQ, Zhou F, De-Min Y, Han Y, Zhang DH, Gong QM, Lu ZM, Kong XF, Wang JS, Zhang XX.

BMC Med Genet. 2011 Jan 11;12:6. doi: 10.1186/1471-2350-12-6.

13.

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.

14.

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
15.

Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

Gupta A, Maulik M, Nasipuri P, Chattopadhyay I, Das SK, Gangopadhyay PK; Indian Genome Variation Consortium, Ray K.

Clin Chem. 2007 Sep;53(9):1601-8. Epub 2007 Jul 18.

16.

Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

Bost M, Piguet-Lacroix G, Parant F, Wilson CM.

J Trace Elem Med Biol. 2012 Jun;26(2-3):97-101. doi: 10.1016/j.jtemb.2012.04.024. Epub 2012 Jun 5.

PMID:
22677543
17.

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, Stremmel W, Füllekrug J.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S233-40. doi: 10.1007/s10545-010-9123-5. Epub 2010 Jun 2.

PMID:
20517649
18.

Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

Li K, Zhang WM, Lin S, Wen L, Wang ZF, Xie D, Wei M, Qiu ZQ, Dai Y, Lin MC, Kung HF, Yao FX.

J Hum Genet. 2013 Feb;58(2):67-72. doi: 10.1038/jhg.2012.134. Epub 2012 Dec 13.

PMID:
23235335
19.

Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

Mukherjee S, Dutta S, Majumdar S, Biswas T, Jaiswal P, Sengupta M, Bhattacharya A, Gangopadhyay PK, Bavdekar A, Das SK, Ray K.

Parkinsonism Relat Disord. 2014 Jan;20(1):75-81. doi: 10.1016/j.parkreldis.2013.09.021. Epub 2013 Sep 25.

PMID:
24094725
20.

Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.

Sundaresan S, Eapen CE, Shaji RV, Chandy M, Kurian G, Chandy G.

Med Sci Monit. 2007 Mar;13(3):CS38-40.

PMID:
17325640
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk