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 *

274 related articles for article (PubMed ID: 21610751)

  • 1. Clinical presentation and mutations in Danish patients with Wilson disease.
    Møller LB; Horn N; Jeppesen TD; Vissing J; Wibrand F; Jennum P; Ott P
    Eur J Hum Genet; 2011 Sep; 19(9):935-41. PubMed ID: 21610751
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
    Panagiotakaki E; Tzetis M; Manolaki N; Loudianos G; Papatheodorou A; Manesis E; Nousia-Arvanitakis S; Syriopoulou V; Kanavakis E
    Am J Med Genet A; 2004 Dec; 131(2):168-73. PubMed ID: 15523622
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
    Merle U; Weiss KH; Eisenbach C; Tuma S; Ferenci P; Stremmel W
    BMC Gastroenterol; 2010 Jan; 10():8. PubMed ID: 20082719
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 11690702
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 23333878
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.
    Paradisi I; De Freitas L; Arias S
    Eur J Med Genet; 2015 Feb; 58(2):59-65. PubMed ID: 25497208
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
    Geng J; Wang J; Yao RE; Liu XQ; Fu QH
    World J Pediatr; 2013 May; 9(2):158-62. PubMed ID: 23275100
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prevalence of the H1069Q mutation in ATP7B in discordant pairs with early-onset Parkinson's disease.
    Möller JC; Leinweber B; Rissling I; Oertel WH; Bandmann O; Schmidt HH
    Mov Disord; 2006 Oct; 21(10):1789-90. PubMed ID: 16941464
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
    Hofer H; Willheim-Polli C; Knoflach P; Gabriel C; Vogel W; Trauner M; Müller T; Ferenci P
    J Hum Genet; 2012 Sep; 57(9):564-7. PubMed ID: 22763723
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. The Wilson disease gene: spectrum of mutations and their consequences.
    Thomas GR; Forbes JR; Roberts EA; Walshe JM; Cox DW
    Nat Genet; 1995 Feb; 9(2):210-7. PubMed ID: 7626145
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [Molecular analysis of Wilson disease].
    Vrábelová S; Vánová P; Kopecková L; Trunecka P; Smolka V; Procházková D; Vejvalková S; Suláková A; Kupcová V; Bzdúch V; Kozák L
    Cas Lek Cesk; 2002 Oct; 141(20):642-5. PubMed ID: 12515040
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
    Stapelbroek JM; Bollen CW; van Amstel JK; van Erpecum KJ; van Hattum J; van den Berg LH; Klomp LW; Houwen RH
    J Hepatol; 2004 Nov; 41(5):758-63. PubMed ID: 15519648
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Late-onset Wilson's disease.
    Ferenci P; Członkowska A; Merle U; Ferenc S; Gromadzka G; Yurdaydin C; Vogel W; Bruha R; Schmidt HT; Stremmel W
    Gastroenterology; 2007 Apr; 132(4):1294-8. PubMed ID: 17433323
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
    Park S; Park JY; Kim GH; Choi JH; Kim KM; Kim JB; Yoo HW
    Hum Mutat; 2007 Nov; 28(11):1108-13. PubMed ID: 17587212
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.