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Items: 1 to 20 of 218

1.

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Aggarwal A, Chandhok G, Todorov T, Parekh S, Tilve S, Zibert A, Bhatt M, Schmidt HH.

Ann Hum Genet. 2013 Jul;77(4):299-307. doi: 10.1111/ahg.12024. Epub 2013 Apr 2.

2.

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
3.

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
4.

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
5.

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
6.

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
7.

Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.

Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Finny P, Thomas N, Chandy M, Kurian G, Chandy GM.

World J Gastroenterol. 2008 Aug 7;14(29):4672-6.

8.

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
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.

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.

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
12.

A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations.

Al Jumah M, Majumdar R, Al Rajeh S, Awada A, Al Zaben A, Al Traif I, Al Jumah AR, Rehana Z.

Eur J Neurol. 2004 Feb;11(2):121-4.

PMID:
14748773
13.

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
14.

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
15.

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
16.

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
17.

ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

Ljubić H, Kalauz M, Telarović S, Ferenci P, Ostojić R, Noli MC, Lepori MB, Hrstić I, Vuković J, Premužić M, Radić D, Ravić KG, Sertić J, Merkler A, Barišić AA, Loudianos G, Vucelić B.

Genet Test Mol Biomarkers. 2016 Mar;20(3):112-7. doi: 10.1089/gtmb.2015.0213. Epub 2016 Jan 22.

PMID:
26799313
18.

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
19.

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
20.

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.

Am J Hum Genet. 1997 Aug;61(2):317-28.

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