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Journal Abstract Search

210 related items for PubMed ID: 12404959

  • 1. [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].
    Tesarová M, Hansíková H, Hlavatá A, Klement P, Houst'ková H, Houstĕk J, Zeman J.
    Cas Lek Cesk; 2002 Aug 30; 141(17):551-4. PubMed ID: 12404959
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  • 2. [Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].
    Stratilová L, Zeman J, Houst'ková H, Hansíková H, Konrádová V, Hůlková H, Elleder M, Růzicka E, Tyl D, Hrubá E, Houstĕk J.
    Cas Lek Cesk; 1999 Jun 28; 138(13):401-5. PubMed ID: 10566210
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  • 3. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.
    White SL, Shanske S, Biros I, Warwick L, Dahl HM, Thorburn DR, Di Mauro S.
    Prenat Diagn; 1999 Dec 28; 19(12):1165-8. PubMed ID: 10590437
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  • 4. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
    Enns GM, Bai RK, Beck AE, Wong LJ.
    Mol Genet Metab; 2006 Aug 28; 88(4):364-71. PubMed ID: 16546428
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  • 5. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
    Rojo A, Campos Y, Sánchez JM, Bonaventura I, Aguilar M, García A, González L, Rey MJ, Arenas J, Olivé M, Ferrer I.
    Acta Neuropathol; 2006 Jun 28; 111(6):610-6. PubMed ID: 16525806
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  • 6. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
    Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S.
    Ann Neurol; 1993 Dec 28; 34(6):827-34. PubMed ID: 8250532
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  • 7. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
    López-Gallardo E, Solano A, Herrero-Martín MD, Martínez-Romero I, Castaño-Pérez MD, Andreu AL, Herrera A, López-Pérez MJ, Ruiz-Pesini E, Montoya J.
    J Med Genet; 2009 Jan 28; 46(1):64-7. PubMed ID: 19124644
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  • 8. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
    Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP.
    Am J Med Genet; 1994 Apr 15; 50(3):265-71. PubMed ID: 8042671
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  • 9. [A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA].
    Mitani M, Jinnai K, Takahashi K, Koide R, Tsuji S.
    Rinsho Shinkeigaku; 2000 Jun 15; 40(6):600-4. PubMed ID: 11086401
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  • 14. Diagnostic challenges of mitochondrial DNA disorders.
    Wong LJ.
    Mitochondrion; 2007 Jun 15; 7(1-2):45-52. PubMed ID: 17276740
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  • 15. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.
    Steffann J, Frydman N, Gigarel N, Burlet P, Ray PF, Fanchin R, Feyereisen E, Kerbrat V, Tachdjian G, Bonnefont JP, Frydman R, Munnich A.
    J Med Genet; 2006 Mar 15; 43(3):244-7. PubMed ID: 16155197
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  • 20. Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families.
    Wu CC, Chiu YH, Chen PJ, Hsu CJ.
    Ear Hear; 2007 Jun 15; 28(3):332-42. PubMed ID: 17485982
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