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Journal Abstract Search

717 related items for PubMed ID: 18247303

  • 1.
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  • 2. Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.
    Sun YH, Wei QP, Zhou X, Qian Y, Zhou J, Lu F, Qu J, Guan MX.
    Biochem Biophys Res Commun; 2006 Aug 18; 347(1):221-5. PubMed ID: 16806060
    [Abstract] [Full Text] [Related]

  • 3. Leber's hereditary optic neuropathy: a multifactorial disease.
    Yen MY, Wang AG, Wei YH.
    Prog Retin Eye Res; 2006 Jul 18; 25(4):381-96. PubMed ID: 16829155
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  • 5. Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families.
    Martin-Kleiner I, Gabrilovac J, Bradvica M, Vidović T, Cerovski B, Fumić K, Boranić M.
    Coll Antropol; 2006 Mar 18; 30(1):171-4. PubMed ID: 16617593
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  • 6. Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.
    Grazina MM, Diogo LM, Garcia PC, Silva ED, Garcia TD, Robalo CB, Oliveira CR.
    Eur J Paediatr Neurol; 2007 Mar 18; 11(2):115-8. PubMed ID: 17254817
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  • 7. Mitochondrial D-loop variation in leber hereditary neuropathy patients harboring primary G11778A, G3460A, T14484C mutations: J and W haplogroups as high-risk factors.
    Shafa Shariat Panahi M, Houshmand M, Tabassi AR.
    Arch Med Res; 2006 Nov 18; 37(8):1028-33. PubMed ID: 17045122
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  • 9. Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology.
    Mashima Y, Nagano M, Funayama T, Zhang Q, Egashira T, Kudho J, Shimizu N, Oguchi Y.
    Clin Biochem; 2004 Apr 18; 37(4):268-76. PubMed ID: 15003728
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  • 10. Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.
    Qu J, Zhou X, Zhao F, Liu X, Zhang M, Sun YH, Liang M, Yuan M, Liu Q, Tong Y, Wei QP, Yang L, Guan MX.
    Biochim Biophys Acta; 2010 Mar 18; 1800(3):305-12. PubMed ID: 19733221
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  • 11. [Spectrum of pathogenic mtDNA mutations in Leber hereditary optic neuropathy families from Siberia].
    Volod'ko NV, L'vova MA, Starikovskaia EB, Derbeneva OA, Bychkov IIu, Mikhaĭlovskaia IE, Pogozheva IV, Fedotov FF, Soyan GV, Procaccio V, Wallace DC, Sukernik RI.
    Genetika; 2006 Jan 18; 42(1):89-97. PubMed ID: 16523671
    [Abstract] [Full Text] [Related]

  • 12. White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation.
    Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T.
    Eur J Paediatr Neurol; 2002 Jan 18; 6(2):121-3. PubMed ID: 11995959
    [Abstract] [Full Text] [Related]

  • 13. Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
    Qu J, Zhou X, Zhang J, Zhao F, Sun YH, Tong Y, Wei QP, Cai W, Yang L, West CE, Guan MX.
    Ophthalmology; 2009 Mar 18; 116(3):558-564.e3. PubMed ID: 19167085
    [Abstract] [Full Text] [Related]

  • 14. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve.
    Howell N.
    Vision Res; 1997 Dec 18; 37(24):3495-507. PubMed ID: 9425526
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  • 15. Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.
    Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, Xu M, Zhu J, Meng X, Zhao F, Tong Y, Liu X, Sun Y, Zhou X, Mo JQ, Qu J, Guan MX.
    Invest Ophthalmol Vis Sci; 2014 Mar 06; 55(3):1321-31. PubMed ID: 24398099
    [Abstract] [Full Text] [Related]

  • 16. Clinical spectrum of Leber's hereditary optic neuropathy.
    Kerrison JB, Newman NJ.
    Clin Neurosci; 1997 Mar 06; 4(5):295-301. PubMed ID: 9292259
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  • 17. Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.
    Khan NA, Govindaraj P, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K.
    Invest Ophthalmol Vis Sci; 2017 Aug 01; 58(10):3923-3930. PubMed ID: 28768321
    [Abstract] [Full Text] [Related]

  • 18. Mitochondrial abnormalities in patients with LHON-like optic neuropathies.
    Abu-Amero KK, Bosley TM.
    Invest Ophthalmol Vis Sci; 2006 Oct 01; 47(10):4211-20. PubMed ID: 17003408
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  • 19. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.
    Zhang J, Zhao F, Fu Q, Liang M, Tong Y, Liu X, Lin B, Mi H, Zhang M, Wei QP, Xue L, Jiang P, Zhou X, Mo JQ, Huang T, Qu J, Guan MX.
    Mitochondrion; 2013 Nov 01; 13(6):772-81. PubMed ID: 23665487
    [Abstract] [Full Text] [Related]

  • 20. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations.
    Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC.
    Am J Med Genet; 2001 Dec 15; 104(4):331-8. PubMed ID: 11754070
    [Abstract] [Full Text] [Related]

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