BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

285 related articles for article (PubMed ID: 12545691)

  • 1. 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; 100():169-78; discussion 178-9. PubMed ID: 12545691
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.
    Sadun AA; Carelli V; Salomao SR; Berezovsky A; Quiros PA; Sadun F; DeNegri AM; Andrade R; Moraes M; Passos A; Kjaer P; Pereira J; Valentino ML; Schein S; Belfort R
    Am J Ophthalmol; 2003 Aug; 136(2):231-8. PubMed ID: 12888043
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation].
    Tong Y; Wang Y; Jiang F; Liu B; Zhang S; Yang W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Oct; 25(5):531-3. PubMed ID: 18841565
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.
    Leo-Kottler B; Christ-Adler M; Baumann B; Zrenner E; Wissinger B
    Ger J Ophthalmol; 1996 Jul; 5(4):233-40. PubMed ID: 8854108
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA.
    Hotta Y; Fujiki K; Hayakawa M; Nakajima A; Kanai A; Mashima Y; Hiida Y; Shinoda K; Yamada K; Oguchi Y
    Jpn J Ophthalmol; 1995; 39(1):96-108. PubMed ID: 7643491
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Leber's hereditary optic neuropathy with childhood onset.
    Barboni P; Savini G; Valentino ML; La Morgia C; Bellusci C; De Negri AM; Sadun F; Carta A; Carbonelli M; Sadun AA; Carelli V
    Invest Ophthalmol Vis Sci; 2006 Dec; 47(12):5303-9. PubMed ID: 17122117
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.
    Chuenkongkaew W; Lertrit P; Suphavilai R
    Southeast Asian J Trop Med Public Health; 2004 Mar; 35(1):167-8. PubMed ID: 15272763
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study.
    Sadun AA; Salomao SR; Berezovsky A; Sadun F; Denegri AM; Quiros PA; Chicani F; Ventura D; Barboni P; Sherman J; Sutter E; Belfort R; Carelli V
    Trans Am Ophthalmol Soc; 2006; 104():51-61. PubMed ID: 17471325
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy.
    Ventura DF; Gualtieri M; Oliveira AG; Costa MF; Quiros P; Sadun F; de Negri AM; Salomão SR; Berezovsky A; Sherman J; Sadun AA; Carelli V
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2362-70. PubMed ID: 17460303
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy.
    Ventura DF; Quiros P; Carelli V; Salomão SR; Gualtieri M; Oliveira AG; Costa MF; Berezovsky A; Sadun F; de Negri AM; Sadun AA
    Invest Ophthalmol Vis Sci; 2005 Dec; 46(12):4809-14. PubMed ID: 16303983
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.
    Spruijt L; Kolbach DN; de Coo RF; Plomp AS; Bauer NJ; Smeets HJ; de Die-Smulders CE
    Am J Ophthalmol; 2006 Apr; 141(4):676-82. PubMed ID: 16564802
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 347(1):221-5. PubMed ID: 16806060
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.
    Quiros PA; Torres RJ; Salomao S; Berezovsky A; Carelli V; Sherman J; Sadun F; De Negri A; Belfort R; Sadun AA
    Br J Ophthalmol; 2006 Feb; 90(2):150-3. PubMed ID: 16424523
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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; 18(6):441-3. PubMed ID: 11774211
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.
    Jacobi FK; Leo-Kottler B; Mittelviefhaus K; Zrenner E; Meyer J; Pusch CM; Wissinger B
    Invest Ophthalmol Vis Sci; 2001 May; 42(6):1208-14. PubMed ID: 11328729
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Leber's hereditary optic neuropathy: clinical and molecular profile of a Brazilian sample.
    Maciel-Guerra AT; Zanchetta LM; Amaral Fernandes MS; Andrade PB; do Amor Divino Miranda PM; Sartorato EL
    Ophthalmic Genet; 2010 Sep; 31(3):126-8. PubMed ID: 20565249
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy with the 14484 mutation.
    Yamada K; Mashima Y; Kigasawa K; Miyashita K; Wakakura M; Oguchi Y
    J Neuroophthalmol; 1997 Jun; 17(2):103-7. PubMed ID: 9176781
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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; 59(10):777-9. PubMed ID: 12632910
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 37(4):268-76. PubMed ID: 15003728
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Detection of mtDNA 11778 (G-->A) point mutation in a family with Leber's hereditary optic neuropathy by site-specific polymerase chain reaction].
    Niu SL; Zhang Y; Xu YF; Bu DF; Ren ZQ; Wang SY; Liu GH; Qi Y
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):153-5. PubMed ID: 12905709
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.