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.
123 related articles for article (PubMed ID: 22532554)
1. Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy. Shanske S; Naini A; Chmait RH; Akman HO; Mansukhani M; Lu J; Hirano M; DiMauro S J Child Neurol; 2013 Feb; 28(2):264-8. PubMed ID: 22532554 [TBL] [Abstract][Full Text] [Related]
2. Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome. Steffann J; Gigarel N; Corcos J; Bonnière M; Encha-Razavi F; Sinico M; Prevot S; Dumez Y; Yamgnane A; Frydman R; Munnich A; Bonnefont JP J Med Genet; 2007 Oct; 44(10):664-9. PubMed ID: 17545557 [TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development. Bouchet C; Steffann J; Corcos J; Monnot S; Paquis V; Rötig A; Lebon S; Levy P; Royer G; Giurgea I; Gigarel N; Benachi A; Dumez Y; Munnich A; Bonnefont JP J Med Genet; 2006 Oct; 43(10):788-92. PubMed ID: 16690729 [TBL] [Abstract][Full Text] [Related]
4. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. Uittenbogaard M; Brantner CA; Fang Z; Wong LC; Gropman A; Chiaramello A Mol Genet Metab; 2018 May; 124(1):71-81. PubMed ID: 29602698 [TBL] [Abstract][Full Text] [Related]
5. Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA. Leshinsky-Silver E; Perach M; Basilevsky E; Hershkovitz E; Yanoov-Sharav M; Lerman-Sagie T; Lev D Prenat Diagn; 2003 Jan; 23(1):31-3. PubMed ID: 12533809 [TBL] [Abstract][Full Text] [Related]
6. Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation. Jacobs LJ; de Coo IF; Nijland JG; Galjaard RJ; Los FJ; Schoonderwoerd K; Niermeijer MF; Geraedts JP; Scholte HR; Smeets HJ Mol Hum Reprod; 2005 Mar; 11(3):223-8. PubMed ID: 15709156 [TBL] [Abstract][Full Text] [Related]
7. Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders. Vachin P; Adda-Herzog E; Chalouhi G; Elie C; Rio M; Rondeau S; Gigarel N; Jabot Hanin F; Monnot S; Borghese R; Bengoa J; Ville Y; Rotig A; Munnich A; Bonnefont JP; Steffann J J Med Genet; 2018 Feb; 55(2):131-136. PubMed ID: 28754700 [TBL] [Abstract][Full Text] [Related]
8. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? Swalwell H; Blakely EL; Sutton R; Tonska K; Elstner M; He L; Taivassalo T; Burns DK; Turnbull DM; Haller RG; Davidson MM; Taylor RW Eur J Hum Genet; 2008 Oct; 16(10):1265-74. PubMed ID: 18398437 [TBL] [Abstract][Full Text] [Related]
9. Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. Honzik T; Tesarova M; Vinsova K; Hansikova H; Magner M; Kratochvilova H; Zamecnik J; Zeman J; Jesina P Mol Genet Metab; 2013 Jan; 108(1):102-5. PubMed ID: 23206802 [TBL] [Abstract][Full Text] [Related]
10. Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening. Alila-Fersi O; Chamkha I; Majdoub I; Gargouri L; Mkaouar-Rebai E; Tabebi M; Tlili A; Keskes L; Mahfoudh A; Fakhfakh F Biochem Biophys Res Commun; 2017 Feb; 484(1):71-78. PubMed ID: 28104394 [TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G. Pettman R; Hurley T; Addis J; Robinson B; Scott H; Kronick JB J Inherit Metab Dis; 2007 Jun; 30(3):404. PubMed ID: 17508265 [TBL] [Abstract][Full Text] [Related]
12. Unusual findings in Leigh syndrome caused by T8993C mutation. Yiş U; Seneca S; Dirik E; Kurul SH; Ozer E; Cakmakçi H; De Meirleir L Eur J Paediatr Neurol; 2009 Nov; 13(6):550-2. PubMed ID: 19046652 [TBL] [Abstract][Full Text] [Related]
13. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. Hung PC; Wang HS Dev Med Child Neurol; 2007 Jan; 49(1):65-7. PubMed ID: 17209980 [TBL] [Abstract][Full Text] [Related]
14. Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. Kara B; Arıkan M; Maraş H; Abacı N; Cakıris A; Ustek D Mol Genet Metab; 2012 Nov; 107(3):389-93. PubMed ID: 22819295 [TBL] [Abstract][Full Text] [Related]
15. [Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G)]. Playán A; Solano-Palacios A; González de la Rosa JB; Merino-Arribas JM; Andreu AL; López-Pérez M; Montoya J Rev Neurol; 2002 Jun 16-30; 34(12):1124-6. PubMed ID: 12134275 [TBL] [Abstract][Full Text] [Related]
16. Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. Ferlin T; Landrieu P; Rambaud C; Fernandez H; Dumoulin R; Rustin P; Mousson B J Pediatr; 1997 Sep; 131(3):447-9. PubMed ID: 9329425 [TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis of mitochondrial DNA8993 T----G disease. Harding AE; Holt IJ; Sweeney MG; Brockington M; Davis MB Am J Hum Genet; 1992 Mar; 50(3):629-33. PubMed ID: 1539598 [TBL] [Abstract][Full Text] [Related]
18. Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness. Feigenbaum A; Bai RK; Doherty ES; Kwon H; Tan D; Sloane A; Cutz E; Robinson BH; Wong LJ Am J Med Genet A; 2006 Oct; 140(20):2216-22. PubMed ID: 16955414 [TBL] [Abstract][Full Text] [Related]
19. A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. Jackson CB; Hahn D; Schröter B; Richter U; Battersby BJ; Schmitt-Mechelke T; Marttinen P; Nuoffer JM; Schaller A Eur J Med Genet; 2017 Jun; 60(6):345-351. PubMed ID: 28412374 [TBL] [Abstract][Full Text] [Related]
20. Somatic mutations of the mitochondrial genome in Chinese patients with Ewing sarcoma. Yu M; Wan Y; Zou Q Hum Pathol; 2013 Jul; 44(7):1350-6. PubMed ID: 23375644 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]