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 *

193 related articles for article (PubMed ID: 9683610)

  • 1. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
    Hirano M; Garcia-de-Yebenes J; Jones AC; Nishino I; DiMauro S; Carlo JR; Bender AN; Hahn AF; Salberg LM; Weeks DE; Nygaard TG
    Am J Hum Genet; 1998 Aug; 63(2):526-33. PubMed ID: 9683610
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. MNGIE: from nuclear DNA to mitochondrial DNA.
    Nishino I; Spinazzola A; Hirano M
    Neuromuscul Disord; 2001 Jan; 11(1):7-10. PubMed ID: 11166160
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.
    Carrozzo R; Hirano M; Fromenty B; Casali C; Santorelli FM; Bonilla E; DiMauro S; Schon EA; Miranda AF
    Neurology; 1998 Jan; 50(1):99-106. PubMed ID: 9443465
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
    Nishino I; Spinazzola A; Hirano M
    Science; 1999 Jan; 283(5402):689-92. PubMed ID: 9924029
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
    Szigeti K; Wong LJ; Perng CL; Saifi GM; Eldin K; Adesina AM; Cass DL; Hirano M; Lupski JR; Scaglia F
    J Med Genet; 2004 Feb; 41(2):125-9. PubMed ID: 14757860
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.
    Hirano M; Silvestri G; Blake DM; Lombes A; Minetti C; Bonilla E; Hays AP; Lovelace RE; Butler I; Bertorini TE
    Neurology; 1994 Apr; 44(4):721-7. PubMed ID: 8164833
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome.
    Papadimitriou A; Comi GP; Hadjigeorgiou GM; Bordoni A; Sciacco M; Napoli L; Prelle A; Moggio M; Fagiolari G; Bresolin N; Salani S; Anastasopoulos I; Giassakis G; Divari R; Scarlato G
    Neurology; 1998 Oct; 51(4):1086-92. PubMed ID: 9781534
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
    Garone C; Tadesse S; Hirano M
    Brain; 2011 Nov; 134(Pt 11):3326-32. PubMed ID: 21933806
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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]  

  • 17. 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]  

  • 18. ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
    Nishigaki Y; Marti R; Hirano M
    Hum Mol Genet; 2004 Jan; 13(1):91-101. PubMed ID: 14613972
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.
    Giordano C; Sebastiani M; De Giorgio R; Travaglini C; Tancredi A; Valentino ML; Bellan M; Cossarizza A; Hirano M; d'Amati G; Carelli V
    Am J Pathol; 2008 Oct; 173(4):1120-8. PubMed ID: 18787099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.