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 *

154 related articles for article (PubMed ID: 17989055)

  • 1. [Mitochondrial DNA mutations and related human diseases].
    Chen G; Du WD; Cao HM
    Yi Chuan; 2007 Nov; 29(11):1299-1308. PubMed ID: 17989055
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Human mitochondrial DNA: roles of inherited and somatic mutations.
    Schon EA; DiMauro S; Hirano M
    Nat Rev Genet; 2012 Dec; 13(12):878-90. PubMed ID: 23154810
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pathogenic mitochondrial DNA mutations in protein-coding genes.
    Wong LJ
    Muscle Nerve; 2007 Sep; 36(3):279-93. PubMed ID: 17503499
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genotype-phenotype correlation of maternally inherited disorders due to mutations in mitochondrial DNA.
    Thajeb P; Dai D; Chiang MF; Shyu WC
    Taiwan J Obstet Gynecol; 2006 Sep; 45(3):201-7. PubMed ID: 17175464
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?
    Chinnery PF; Samuels DC; Elson J; Turnbull DM
    Lancet; 2002 Oct; 360(9342):1323-5. PubMed ID: 12414225
    [TBL] [Abstract][Full Text] [Related]  

  • 6. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
    El-Hattab AW; Wang J; Dai H; Almannai M; Staufner C; Alfadhel M; Gambello MJ; Prasun P; Raza S; Lyons HJ; Afqi M; Saleh MAM; Faqeih EA; Alzaidan HI; Alshenqiti A; Flore LA; Hertecant J; Sacharow S; Barbouth DS; Murayama K; Shah AA; Lin HC; Wong LC
    Hum Mutat; 2018 Apr; 39(4):461-470. PubMed ID: 29282788
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial DNA mutations in human disease.
    Greaves LC; Taylor RW
    IUBMB Life; 2006 Mar; 58(3):143-51. PubMed ID: 16766381
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
    Ardissone A; Ferrera G; Lamperti C; Tiranti V; Ghezzi D; Moroni I; Lamantea E
    Eur J Neurol; 2023 Jul; 30(7):2079-2091. PubMed ID: 37038312
    [TBL] [Abstract][Full Text] [Related]  

  • 9. MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
    Naess K; Freyer C; Bruhn H; Wibom R; Malm G; Nennesmo I; von Döbeln U; Larsson NG
    Biochim Biophys Acta; 2009 May; 1787(5):484-90. PubMed ID: 19103152
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lessons from mitochondrial DNA mutations.
    DiMauro S
    Semin Cell Dev Biol; 2001 Dec; 12(6):397-405. PubMed ID: 11735374
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
    McFarland R; Clark KM; Morris AA; Taylor RW; Macphail S; Lightowlers RN; Turnbull DM
    Nat Genet; 2002 Feb; 30(2):145-6. PubMed ID: 11799391
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ophthalmological manifestations in patients with Leigh syndrome.
    Han J; Lee YM; Kim SM; Han SY; Lee JB; Han SH
    Br J Ophthalmol; 2015 Apr; 99(4):528-35. PubMed ID: 25351680
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.
    Pang CY; Huang CC; Yen MY; Wang EK; Kao KP; Chen SS; Wei YH
    J Formos Med Assoc; 1999 May; 98(5):326-34. PubMed ID: 10420700
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mitochondrial disorders of the nuclear genome.
    Angelini C; Bello L; Spinazzi M; Ferrati C
    Acta Myol; 2009 Jul; 28(1):16-23. PubMed ID: 19772191
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The other human genome.
    Shanske AL; Shanske S; DiMauro S
    Arch Pediatr Adolesc Med; 2001 Nov; 155(11):1210-6. PubMed ID: 11695929
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta.
    Marchington D; Malik S; Banerjee A; Turner K; Samuels D; Macaulay V; Oakeshott P; Fratter C; Kennedy S; Poulton J
    J Med Genet; 2010 Apr; 47(4):257-61. PubMed ID: 19914907
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial DNA medicine.
    DiMauro S
    Biosci Rep; 2007 Jun; 27(1-3):5-9. PubMed ID: 17484047
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The genetics of mitochondrial disease.
    Davis RL; Sue CM
    Semin Neurol; 2011 Nov; 31(5):519-30. PubMed ID: 22266889
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.
    Leshinsky-Silver E; Shuvalov R; Inbar S; Cohen S; Lev D; Lerman-Sagie T
    J Child Neurol; 2011 Apr; 26(4):476-81. PubMed ID: 21196529
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial disorder with OPA1 mutation lacking optic atrophy.
    Milone M; Younge BR; Wang J; Zhang S; Wong LJ
    Mitochondrion; 2009 Jul; 9(4):279-81. PubMed ID: 19303950
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.