BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 24882692)

  • 1. Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
    Lee JS; Lim BC; Kim KJ; Hwang YS; Cheon JE; Kim IO; Seong MW; Park SS; Chae JH
    Brain Dev; 2015 Feb; 37(2):223-9. PubMed ID: 24882692
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Menkes disease and infantile epilepsy.
    Prasad AN; Levin S; Rupar CA; Prasad C
    Brain Dev; 2011 Nov; 33(10):866-76. PubMed ID: 21924848
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Epilepsy in children with Menkes disease: a systematic review of literature.
    Verrotti A; Carelli A; Coppola G
    J Child Neurol; 2014 Dec; 29(12):1757-64. PubMed ID: 25038123
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
    Kaler SG; Liew CJ; Donsante A; Hicks JD; Sato S; Greenfield JC
    J Inherit Metab Dis; 2010 Oct; 33(5):583-9. PubMed ID: 20652413
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.
    Park HD; Moon HK; Lee J; Lee M; Lee SY; Kim JW; Ki CS
    Ann Clin Lab Sci; 2009; 39(2):188-91. PubMed ID: 19429807
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
    Kim JH; Lee BH; Kim YM; Choi JH; Kim GH; Cheon CK; Yoo HW
    Metab Brain Dis; 2015 Feb; 30(1):75-81. PubMed ID: 24919650
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease.
    Kim YH; Lee R; Yoo HW; Yum MS; Bae SH; Chung SC; Park YM; Son JS
    J Korean Med Sci; 2011 Jul; 26(7):951-3. PubMed ID: 21738351
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
    Tang J; Donsante A; Desai V; Patronas N; Kaler SG
    Mol Genet Metab; 2008 Nov; 95(3):174-81. PubMed ID: 18752978
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
    Tümer Z; Birk Møller L; Horn N
    Hum Mutat; 2003 Dec; 22(6):457-64. PubMed ID: 14635105
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Twenty-five novel mutations including duplications in the ATP7A gene.
    Moizard MP; Ronce N; Blesson S; Bieth E; Burglen L; Mignot C; Mortemousque I; Marmin N; Dessay B; Danesino C; Feillet F; Castelnau P; Toutain A; Moraine C; Raynaud M
    Clin Genet; 2011 Mar; 79(3):243-53. PubMed ID: 21208200
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Electro-clinical features and magnetic resonance imaging correlates in Menkes disease.
    Bindu PS; Taly AB; Kothari S; Christopher R; Gayathri N; Sinha S; Nagappa M; Bhatt M; Bharath RD
    Brain Dev; 2013 May; 35(5):398-405. PubMed ID: 22921468
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
    Borm B; Møller LB; Hausser I; Emeis M; Baerlocher K; Horn N; Rossi R
    J Pediatr; 2004 Jul; 145(1):119-21. PubMed ID: 15238919
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Menkes disease in affected females: the clinical disease spectrum.
    Smpokou P; Samanta M; Berry GT; Hecht L; Engle EC; Lichter-Konecki U
    Am J Med Genet A; 2015 Feb; 167A(2):417-20. PubMed ID: 25428120
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Small amounts of functional ATP7A protein permit mild phenotype.
    Møller LB
    J Trace Elem Med Biol; 2015; 31():173-7. PubMed ID: 25172213
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis.
    László A; Endreffy E; Tümer Z; Horn N; Szabó J
    Ideggyogy Sz; 2010 Jan; 63(1-2):48-51. PubMed ID: 20420124
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
    Møller LB; Rea G; Yasmeen S; Skjørringe T; Thorborg SS; Morrison PJ; Donnelly DE
    Mol Genet Metab; 2013 Dec; 110(4):490-2. PubMed ID: 24100245
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].
    Yagi M; Kusunoki N; Lee T; Awano H; Kodama H; Takeshima Y; Iijima K
    No To Hattatsu; 2014 May; 46(3):227-8. PubMed ID: 24902345
    [No Abstract]   [Full Text] [Related]  

  • 18. The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
    León-García G; Santana A; Villegas-Sepúlveda N; Pérez-González C; Henrríquez-Esquíroz JM; de León-García C; Wong C; Baeza I
    BMC Pediatr; 2012 Sep; 12():150. PubMed ID: 22992316
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
    Tümer Z
    Hum Mutat; 2013 Mar; 34(3):417-29. PubMed ID: 23281160
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.
    Seidel J; Møller LB; Mentzel HJ; Kauf E; Vogt S; Patzer S; Wollina U; Zintl F; Horn N
    Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL141-8. PubMed ID: 11936860
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.