BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 10558868)

  • 1. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
    Coenen MJ; van den Heuvel LP; Nijtmans LG; Morava E; Marquardt I; Girschick HJ; Trijbels FJ; Grivell LA; Smeitink JA
    Biochem Biophys Res Commun; 1999 Nov; 265(2):339-44. PubMed ID: 10558868
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
    Péquignot MO; Dey R; Zeviani M; Tiranti V; Godinot C; Poyau A; Sue C; Di Mauro S; Abitbol M; Marsac C
    Hum Mutat; 2001 May; 17(5):374-81. PubMed ID: 11317352
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.
    Williams SL; Taanman JW; Hansíková H; Houst'ková H; Chowdhury S; Zeman J; Houstek J
    Mol Genet Metab; 2001 Aug; 73(4):340-3. PubMed ID: 11509016
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
    Sue CM; Karadimas C; Checcarelli N; Tanji K; Papadopoulou LC; Pallotti F; Guo FL; Shanske S; Hirano M; De Vivo DC; Van Coster R; Kaplan P; Bonilla E; DiMauro S
    Ann Neurol; 2000 May; 47(5):589-95. PubMed ID: 10805329
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cytochrome c oxidase deficiency.
    Shoubridge EA
    Am J Med Genet; 2001; 106(1):46-52. PubMed ID: 11579424
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
    Makino M; Horai S; Goto Y; Nonaka I
    J Hum Genet; 2000; 45(2):69-75. PubMed ID: 10721666
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
    Zhu Z; Yao J; Johns T; Fu K; De Bie I; Macmillan C; Cuthbert AP; Newbold RF; Wang J; Chevrette M; Brown GK; Brown RM; Shoubridge EA
    Nat Genet; 1998 Dec; 20(4):337-43. PubMed ID: 9843204
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
    Papadopoulou LC; Sue CM; Davidson MM; Tanji K; Nishino I; Sadlock JE; Krishna S; Walker W; Selby J; Glerum DM; Coster RV; Lyon G; Scalais E; Lebel R; Kaplan P; Shanske S; De Vivo DC; Bonilla E; Hirano M; DiMauro S; Schon EA
    Nat Genet; 1999 Nov; 23(3):333-7. PubMed ID: 10545952
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
    Coenen MJ; van den Heuvel LP; Ugalde C; Ten Brinke M; Nijtmans LG; Trijbels FJ; Beblo S; Maier EM; Muntau AC; Smeitink JA
    Ann Neurol; 2004 Oct; 56(4):560-4. PubMed ID: 15455402
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].
    Capková M; Hansíková H; Godinot C; Houst'ková H; Houstĕk J; Zeman J
    Cas Lek Cesk; 2002 Oct; 141(20):636-41. PubMed ID: 12515039
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.
    Yüksel A; Seven M; Cetincelik U; Yeşil G; Köksal V
    Pediatr Neurol; 2006 Jun; 34(6):486-9. PubMed ID: 16765830
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
    Yang YL; Sun F; Zhang Y; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Qi ZY; Zhang YH; Jiang YW; Bao XH; Qin J; Wu XR
    Chin Med J (Engl); 2006 Mar; 119(5):373-7. PubMed ID: 16542579
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human cytochrome oxidase deficiency.
    Robinson BH
    Pediatr Res; 2000 Nov; 48(5):581-5. PubMed ID: 11044474
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
    Monnot S; Chabrol B; Cano A; Pellissier JF; Collignon P; Montfort MF; Paquis-Flucklinger V
    Arch Pediatr; 2005 May; 12(5):568-71. PubMed ID: 15885549
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.
    Böhm M; Pronicka E; Karczmarewicz E; Pronicki M; Piekutowska-Abramczuk D; Sykut-Cegielska J; Mierzewska H; Hansikova H; Vesela K; Tesarova M; Houstkova H; Houstek J; Zeman J
    Pediatr Res; 2006 Jan; 59(1):21-6. PubMed ID: 16326995
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
    van Riesen AK; Antonicka H; Ohlenbusch A; Shoubridge EA; Wilichowski EK
    Neuropediatrics; 2006 Apr; 37(2):88-94. PubMed ID: 16773507
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
    Tiranti V; Jaksch M; Hofmann S; Galimberti C; Hoertnagel K; Lulli L; Freisinger P; Bindoff L; Gerbitz KD; Comi GP; Uziel G; Zeviani M; Meitinger T
    Ann Neurol; 1999 Aug; 46(2):161-6. PubMed ID: 10443880
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
    Piekutowska-Abramczuk D; Popowska E; Pronicki M; Karczmarewicz E; Tylek-Lemanska D; Sykut-Cegielska J; Szymanska-Dembinska T; Bielecka L; Krajewska-Walasek M; Pronicka E
    Eur J Paediatr Neurol; 2009 Mar; 13(2):146-53. PubMed ID: 18583168
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.
    Horvath R; Lochmüller H; Stucka R; Yao J; Shoubridge EA; Kim SH; Gerbitz KD; Jaksch M
    Biochem Biophys Res Commun; 2000 Sep; 276(2):530-3. PubMed ID: 11027508
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial cytopathies and neuromuscular disorders.
    Van Coster R; De Meirleir L
    Acta Neurol Belg; 2000 Sep; 100(3):156-61. PubMed ID: 11098288
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.