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 *

488 related articles for article (PubMed ID: 15952988)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
    Loudianos G; Kostic V; Solinas P; Lovicu M; Dessì V; Svetel M; Major T; Cao A
    Genet Test; 2003; 7(2):107-12. PubMed ID: 12885331
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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. PubMed ID: 26215059
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 569(1):83-7. PubMed ID: 25982861
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 24878384
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
    Lepori MB; Lovicu M; Dessi V; Zappu A; Incollu S; Zancan L; Giacchino R; Iorio R; Vajro P; Maggiore G; Marcellini M; Barbera C; Pellecchia MT; Simonetti R; Kostic V; Farci AM; Solinas A; De Virgiliis S; Cao A; Loudianos G
    Genet Test; 2007; 11(3):328-32. PubMed ID: 17949296
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 25(14):1075-80. PubMed ID: 25089800
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 9199563
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 54(2):103-7. PubMed ID: 21034864
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
    Yuan ZF; Wu W; Yu YL; Shen J; Mao SS; Gao F; Xia ZZ
    World J Pediatr; 2015 Aug; 11(3):255-60. PubMed ID: 26253413
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 17823867
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 514(1):48-53. PubMed ID: 23159873
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 24094725
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.