BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 20593055)

  • 1. Chronic intestinal pseudo-obstruction and neurological manifestations in early adulthood: considering MNGIE syndrome in differential diagnosis.
    Oztas E; Ozin Y; Onder F; Onal IK; Oguz D; Kocaefe C
    J Gastrointestin Liver Dis; 2010 Jun; 19(2):195-7. PubMed ID: 20593055
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    Kintarak J; Liewluck T; Sangruchi T; Hirano M; Kulkantrakorn K; Muengtaweepongsa S
    Clin Neurol Neurosurg; 2007 Sep; 109(7):613-6. PubMed ID: 17544574
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
    Slama A; Lacroix C; Plante-Bordeneuve V; Lombès A; Conti M; Reimund JM; Auxenfants E; Crenn P; Laforêt P; Joannard A; Seguy D; Pillant H; Joly P; Haut S; Messing B; Said G; Legrand A; Guiochon-Mantel A
    Mol Genet Metab; 2005 Apr; 84(4):326-31. PubMed ID: 15781193
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [MNGIE syndrome in 2 siblings].
    Debouverie M; Wagner M; Ducrocq X; Grignon Y; Mousson B; Weber M
    Rev Neurol (Paris); 1997 Oct; 153(10):547-53. PubMed ID: 9684018
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.
    Bariş Z; Eminoğlu T; Dalgiç B; Tümer L; Hasanoğlu A
    Eur J Pediatr; 2010 Nov; 169(11):1375-8. PubMed ID: 20585803
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].
    Honzík T; Tesarová M; Hansíková H; Krijt J; Benes P; Zámecník J; Wenchich L; Zeman J
    Cas Lek Cesk; 2006; 145(8):665-70. PubMed ID: 16995425
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
    Hirano M; Nishigaki Y; Martí R
    Neurologist; 2004 Jan; 10(1):8-17. PubMed ID: 14720311
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.
    Libernini L; Lupis C; Mastrangelo M; Carrozzo R; Santorelli FM; Inghilleri M; Leuzzi V
    Neuropediatrics; 2012 Aug; 43(4):201-8. PubMed ID: 22618301
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.
    Erdogan MA; Seckin Y; Harputluoglu MM; Karincaoglu M; Aladag M; Caliskan AR; Bilgic Y; Yildirim O; Cagin YF; Atayan Y; Cengiz AN; Emul C; Esener Z; Erbay MF; Tekedereli I
    Clin Dysmorphol; 2019 Jan; 28(1):22-25. PubMed ID: 30407211
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
    Kocaefe YC; Erdem S; Ozgüç M; Tan E
    Eur J Hum Genet; 2003 Jan; 11(1):102-4. PubMed ID: 12529715
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.
    Monroy N; Macías Kauffer LR; Mutchinick OM
    Eur J Med Genet; 2008; 51(3):245-50. PubMed ID: 18280229
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.
    Laforce R; Valdmanis PN; Dupré N; Rouleau GA; Turgeon AF; Savard M
    Clin Neurol Neurosurg; 2009 Oct; 111(8):691-4. PubMed ID: 19523753
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mitochondrial neurogastrointestinal encephalomyopathy.
    Borhani Haghighi A; Nabavizadeh A; Sass JO; Safari A; Lankarani KB
    Arch Iran Med; 2009 Nov; 12(6):588-90. PubMed ID: 19877753
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.
    Bakker JA; Schlesser P; Smeets HJ; Francois B; Bierau J
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(Suppl 3):S139-43. PubMed ID: 20151198
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mitochondrial neurogastrointestinal encephalopathy in an Indian family with possible manifesting carriers of heterozygous TYMP mutation.
    Nalini A; Gayathri N
    J Neurol Sci; 2011 Oct; 309(1-2):131-5. PubMed ID: 21794876
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A previously diagnosed mitochondrial neurogastrointestinal encephalomyopathy patient presenting with perforated ileal diverticulitis.
    Aksoy F; Demirel G; Bilgiç T; Güngör IG; Ozçelik A
    Turk J Gastroenterol; 2005 Dec; 16(4):228-31. PubMed ID: 16547854
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa.
    Feddersen B; DE LA Fontaine L; Sass JO; Lutz J; Abicht A; Klopstock T; Verma IC; Meisenzahl E; Pogarell O
    Am J Psychiatry; 2009 Apr; 166(4):494-5. PubMed ID: 19339372
    [No Abstract]   [Full Text] [Related]  

  • 18. A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.
    Wang HF; Wang J; Wang YL; Fan JJ; Mo GL; Gong FY; Chai ZM; Zhang J; Meng HX; Li CX; Guo JH; Pu CQ
    Acta Neurol Belg; 2017 Mar; 117(1):259-267. PubMed ID: 27709505
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
    Nishino I; Spinazzola A; Papadimitriou A; Hammans S; Steiner I; Hahn CD; Connolly AM; Verloes A; Guimarães J; Maillard I; Hamano H; Donati MA; Semrad CE; Russell JA; Andreu AL; Hadjigeorgiou GM; Vu TH; Tadesse S; Nygaard TG; Nonaka I; Hirano I; Bonilla E; Rowland LP; DiMauro S; Hirano M
    Ann Neurol; 2000 Jun; 47(6):792-800. PubMed ID: 10852545
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.
    Giordano C; Sebastiani M; Plazzi G; Travaglini C; Sale P; Pinti M; Tancredi A; Liguori R; Montagna P; Bellan M; Valentino ML; Cossarizza A; Hirano M; d'Amati G; Carelli V
    Gastroenterology; 2006 Mar; 130(3):893-901. PubMed ID: 16530527
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.