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Items: 1 to 20 of 122

1.

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.

Zali N, Mohebbi SR, Esteghamat S, Chiani M, Haghighi MM, Hosseini-Asl SM, Derakhshan F, Mohammad-Alizadeh AH, Malek-Hosseini SA, Zali MR.

Hepat Mon. 2011 Nov;11(11):890-4. doi: 10.5812/kowsar.1735143X.762. Epub 2011 Nov 30.

2.

Clinical and genetic analysis of pediatric patients with Wilson disease.

Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.

Turk J Gastroenterol. 2015 Sep;26(5):397-403. doi: 10.5152/tjg.2015.0097. Epub 2015 Jul 24.

3.

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
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.

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
6.

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.

Zarina A, Tolmane I, Kreile M, Chernushenko A, Cernevska G, Pukite I, Micule I, Krumina Z, Krumina A, Rozentale B, Piekuse L.

Mol Genet Genomic Med. 2017 Jun 7;5(4):405-409. doi: 10.1002/mgg3.297. eCollection 2017 Jul.

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10.

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.

11.

Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran.

Manoochehri J, Masoumi Dehshiri R, Faraji H, Mohammadi S, Dastsooz H, Moradi T, Rezaei E, Sadeghi Kh, Fardaei M.

Iran J Ped Hematol Oncol. 2014;4(1):26-31. Epub 2014 Feb 20.

12.

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
13.

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.

van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de Graaf SF, de Groot RE, van Beurden E, Spijker E, Houwen RH, Berger R, Klomp LW.

Hepatology. 2009 Dec;50(6):1783-95. doi: 10.1002/hep.23209.

PMID:
19937698
14.

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
15.

Mutational analysis of ATP7B in Chinese Wilson disease patients.

Hua R, Hua F, Jiao Y, Pan Y, Yang X, Peng S, Niu J.

Am J Transl Res. 2016 Jun 15;8(6):2851-61. eCollection 2016.

16.

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
17.

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
18.

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
19.

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
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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