These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 17660582)

  • 1. 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. PubMed ID: 17660582
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 22720308
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
    Gojová L; Jansová E; Külm M; Pouchlá S; Kozák L
    Clin Genet; 2008 May; 73(5):441-52. PubMed ID: 18371106
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 16211609
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR.
    Xu P; Liang X; Jankovic J; Le W
    Arch Neurol; 2001 Nov; 58(11):1879-82. PubMed ID: 11708998
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 26799313
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 15024742
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
    Vrabelova S; Letocha O; Borsky M; Kozak L
    Mol Genet Metab; 2005; 86(1-2):277-85. PubMed ID: 15967699
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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(38):5876-9. PubMed ID: 18855987
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers.
    Majumdar R; Al Jumah M; Fraser M
    Mol Pathol; 2003 Oct; 56(5):302-4. PubMed ID: 14514926
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 9311736
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Rapid detection of common ATP7B mutations in Wilson disease by high resolution melting analysis].
    Zhao X; Liu Y; Huang S; Meng Y; Sun M; Yang W; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Oct; 25(5):515-9. PubMed ID: 18841562
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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. PubMed ID: 15952988
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 108(1):23-8. PubMed ID: 11857545
    [TBL] [Abstract][Full Text] [Related]  

  • 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; ; Ray K
    Clin Chem; 2007 Sep; 53(9):1601-8. PubMed ID: 17634212
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
    El-Mougy FA; Sharaf SA; Elsharkawy MM; Mandour IA; El-Essawy RA; Eldin AM; Helmy HM; Soliman DH; Selim LH; Sharafeldin HM; Mogahed EA; El-Karaksy HM
    Arab J Gastroenterol; 2014; 15(3-4):114-8. PubMed ID: 25465132
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 23551039
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 22145502
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions.
    Lam CW; Mak CM
    Clin Chem; 2006 Mar; 52(3):517-20. PubMed ID: 16510432
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 19062534
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.