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Journal Abstract Search


496 related items for PubMed ID: 17204919

  • 21. A patient with two mitochondrial DNA mutations causing PEO and LHON.
    Melberg A, Moslemi AR, Palm O, Raininko R, Stålberg E, Oldfors A.
    Eur J Med Genet; 2009; 52(1):47-8. PubMed ID: 19015050
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. [Clinical examination of Leber hereditary optic neuropathy in patients with the same gene mutation].
    Chelstowska J, Mroczek K, Niebudek D, Małecka-Idzikowska A, Bartnik E, Hanna Nizankowska M, Sasiadek M.
    Przegl Lek; 2002 Mar 06; 59(10):777-9. PubMed ID: 12632910
    [Abstract] [Full Text] [Related]

  • 24. High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy.
    Nakamura M, Ara F, Yamada M, Hotta Y, Hayakawa M, Fujiki K, Kanai A, Sakai J, Inoue M, Yamamoto M.
    Jpn J Ophthalmol; 1992 Mar 06; 36(1):56-61. PubMed ID: 1635296
    [Abstract] [Full Text] [Related]

  • 25. 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 06; 37(4):268-76. PubMed ID: 15003728
    [Abstract] [Full Text] [Related]

  • 26. High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients.
    Bandelt HJ, Yao YG, Salas A, Kivisild T, Bravi CM.
    Biochem Biophys Res Commun; 2007 Jan 12; 352(2):283-91. PubMed ID: 17123466
    [Abstract] [Full Text] [Related]

  • 27. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A.
    Wang HW, Jia X, Ji Y, Kong QP, Zhang Q, Yao YG, Zhang YP.
    Mutat Res; 2008 Aug 25; 643(1-2):48-53. PubMed ID: 18619472
    [Abstract] [Full Text] [Related]

  • 28. X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
    Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF.
    Mol Vis; 2007 Dec 21; 13():2339-43. PubMed ID: 18199976
    [Abstract] [Full Text] [Related]

  • 29. [Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation].
    Zhang Q, Guo X, Jia X, Xiao X, Guo L, Li S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Dec 21; 18(6):441-3. PubMed ID: 11774211
    [Abstract] [Full Text] [Related]

  • 30. 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 21; 30(1):171-4. PubMed ID: 16617593
    [Abstract] [Full Text] [Related]

  • 31. Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans.
    Kim JY, Hwang JM, Chang BL, Park SS.
    J Neurol; 2003 Mar 21; 250(3):278-81. PubMed ID: 12638016
    [Abstract] [Full Text] [Related]

  • 32. Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy.
    Hwang JM, Kim J, Park SS.
    J Neurol; 2003 Jan 21; 250(1):87-9. PubMed ID: 12527998
    [Abstract] [Full Text] [Related]

  • 33. [Diagnostic and differential diagnostic potential of mitochondrial DNA assessment in patients with Leber's hereditary optic neuropathy].
    Feng X, Pu W, Gao D.
    Zhonghua Yan Ke Za Zhi; 2001 May 21; 37(3):174-7. PubMed ID: 11864415
    [Abstract] [Full Text] [Related]

  • 34. [Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area].
    Zheng ML, Zhang GL, Hua AL, Zhang YL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Apr 21; 21(2):166-7. PubMed ID: 15079802
    [Abstract] [Full Text] [Related]

  • 35. A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.
    Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros P, Sadun F, DeNegri AM, Andrade R, Schein S, Belfort R.
    Trans Am Ophthalmol Soc; 2002 Apr 21; 100():169-78; discussion 178-9. PubMed ID: 12545691
    [Abstract] [Full Text] [Related]

  • 36. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.
    Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan MX.
    Biochem Biophys Res Commun; 2005 Jul 01; 332(2):614-21. PubMed ID: 15896721
    [Abstract] [Full Text] [Related]

  • 37. 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 01; 116(3):558-564.e3. PubMed ID: 19167085
    [Abstract] [Full Text] [Related]

  • 38. 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]

  • 39. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.
    Howell N, Oostra RJ, Bolhuis PA, Spruijt L, Clarke LA, Mackey DA, Preston G, Herrnstadt C.
    Am J Hum Genet; 2003 Jun 18; 72(6):1460-9. PubMed ID: 12736867
    [Abstract] [Full Text] [Related]

  • 40. [The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation].
    Meng X, Zhu J, Gao M, Zhang S, Zhao F, Zhang J, Liu X, Wei Q, Tong Y, Zhang M, Qu J, Guan M.
    Yi Chuan; 2014 Apr 18; 36(4):336-45. PubMed ID: 24846978
    [Abstract] [Full Text] [Related]


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