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 *

335 related articles for article (PubMed ID: 17949296)

  • 1. 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]  

  • 2. 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. PubMed ID: 22484412
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
    Loudianos G; Dessi V; Lovicu M; Angius A; Altuntas B; Giacchino R; Marazzi M; Marcellini M; Sartorelli MR; Sturniolo GC; Kocak N; Yuce A; Akar N; Pirastu M; Cao A
    J Med Genet; 1999 Nov; 36(11):833-6. PubMed ID: 10544227
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
    Loudianos G; Lovicu M; Solinas P; Kanavakis E; Tzetis M; Manolaki N; Panagiotakaki E; Karpathios T; Cao A
    Genet Test; 2000; 4(4):399-402. PubMed ID: 11216666
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Commentary on Vrabelova et al.
    Schmidt HH
    Mol Genet Metab; 2005; 86(1-2):11-2. PubMed ID: 15996499
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
    Todorov T; Savov A; Jelev H; Panteleeva E; Konstantinova D; Krustev Z; Mihaylova V; Tournev I; Tankova L; Tzolova N; Kremensky I
    Clin Genet; 2005 Nov; 68(5):474-6. PubMed ID: 16207219
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.
    Cullen LM; Prat L; Cox DW
    Clin Genet; 2003 Nov; 64(5):429-32. PubMed ID: 14616767
    [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. 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]  

  • 16. Wilson disease: high prevalence in a mountainous area of Crete.
    Dedoussis GV; Genschel J; Sialvera TE; Bochow B; Manolaki N; Manios Y; Tsafantakis E; Schmidt H
    Ann Hum Genet; 2005 May; 69(Pt 3):268-74. PubMed ID: 15845031
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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. PubMed ID: 22677543
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.