BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

374 related articles for article (PubMed ID: 12518276)

  • 1. The epidemiology of Leber hereditary optic neuropathy in the North East of England.
    Yu-Wai-Man P; Griffiths PG; Brown DT; Howell N; Turnbull DM; Chinnery PF
    Am J Hum Genet; 2003 Feb; 72(2):333-9. PubMed ID: 12518276
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 72(6):1460-9. PubMed ID: 12736867
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy.
    Chuenkongkaew WL; Suphavilai R; Vaeusorn L; Phasukkijwatana N; Lertrit P; Suktitipat B
    J Neuroophthalmol; 2005 Sep; 25(3):173-5. PubMed ID: 16148621
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Leber hereditary optic neuropathy in the population of Serbia.
    Jančić J; Dejanović I; Samardžić J; Radovanović S; Pepić A; Kosanović-Jaković N; Ćetković M; Kostić V
    Eur J Paediatr Neurol; 2014 May; 18(3):354-9. PubMed ID: 24508359
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation].
    Sun Y; Lei K; Xu ZL; Geng Y
    Zhonghua Yan Ke Za Zhi; 2018 Jul; 54(7):526-534. PubMed ID: 29996615
    [No Abstract]   [Full Text] [Related]  

  • 6. Leber hereditary optic neuropathy.
    Yu-Wai-Man P; Turnbull DM; Chinnery PF
    J Med Genet; 2002 Mar; 39(3):162-9. PubMed ID: 11897814
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.
    Howell N; Miller NR; Mackey DA; Arnold A; Herrnstadt C; Williams IM; Kubacka I
    J Neuroophthalmol; 2002 Dec; 22(4):262-9. PubMed ID: 12464729
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.
    Bianco A; Valletti A; Longo G; Bisceglia L; Montoya J; Emperador S; Guerriero S; Petruzzella V
    BMC Res Notes; 2018 Dec; 11(1):911. PubMed ID: 30572950
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.
    Jia X; Li S; Xiao X; Guo X; Zhang Q
    J Hum Genet; 2006; 51(10):851-856. PubMed ID: 16972023
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
    Chinnery PF; Andrews RM; Turnbull DM; Howell NN
    Am J Med Genet; 2001 Jan; 98(3):235-43. PubMed ID: 11169561
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.
    Puomila A; Hämäläinen P; Kivioja S; Savontaus ML; Koivumäki S; Huoponen K; Nikoskelainen E
    Eur J Hum Genet; 2007 Oct; 15(10):1079-89. PubMed ID: 17406640
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.
    Korkiamäki P; Kervinen M; Karjalainen K; Majamaa K; Uusimaa J; Remes AM
    Acta Ophthalmol; 2013 Nov; 91(7):630-4. PubMed ID: 22970697
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.
    Zhou X; Wei Q; Yang L; Tong Y; Zhao F; Lu C; Qian Y; Sun Y; Lu F; Qu J; Guan MX
    Biochem Biophys Res Commun; 2006 Feb; 340(1):69-75. PubMed ID: 16364244
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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(2):166-7. PubMed ID: 15079802
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Leber hereditary optic neuropathy: clinical and molecular genetic findings.
    Huoponen K
    Neurogenetics; 2001 Jul; 3(3):119-25. PubMed ID: 11523562
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.
    Bianco A; Bisceglia L; De Caro MF; Galeandro V; De Bonis P; Tullo A; Zoccolella S; Guerriero S; Petruzzella V
    BMC Med Genet; 2018 Jul; 19(1):129. PubMed ID: 30053855
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.
    Bianco A; Bisceglia L; Trerotoli P; Russo L; D'Agruma L; Guerriero S; Petruzzella V
    Acta Myol; 2017 Sep; 36(3):163-177. PubMed ID: 29774306
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.
    Pfeffer G; Burke A; Yu-Wai-Man P; Compston DA; Chinnery PF
    Neurology; 2013 Dec; 81(24):2073-81. PubMed ID: 24198293
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.