BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 11931086)

  • 1. A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy.
    Luberichs J; Leo-Kottler B; Besch D; Fauser S
    Graefes Arch Clin Exp Ophthalmol; 2002 Feb; 240(2):96-100. PubMed ID: 11931086
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy.
    Fauser S; Leo-Kottler B; Besch D; Luberichs J
    Ophthalmic Genet; 2002 Sep; 23(3):191-7. PubMed ID: 12324878
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
    Chinnery PF; Brown DT; Andrews RM; Singh-Kler R; Riordan-Eva P; Lindley J; Applegarth DA; Turnbull DM; Howell N
    Brain; 2001 Jan; 124(Pt 1):209-18. PubMed ID: 11133798
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
    Valentino ML; Avoni P; Barboni P; Pallotti F; Rengo C; Torroni A; Bellan M; Baruzzi A; Carelli V
    Ann Neurol; 2002 Jun; 51(6):774-8. PubMed ID: 12112086
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 55(3):1321-31. PubMed ID: 24398099
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.
    Leo-Kottler B; Luberichs J; Besch D; Christ-Adler M; Fauser S
    Graefes Arch Clin Exp Ophthalmol; 2002 Sep; 240(9):758-64. PubMed ID: 12271374
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
    Besch D; Leo-Kottler B; Zrenner E; Wissinger B
    Graefes Arch Clin Exp Ophthalmol; 1999 Sep; 237(9):745-52. PubMed ID: 10447650
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations.
    Fauser S; Luberichs J; Besch D; Leo-Kottler B
    Biochem Biophys Res Commun; 2002 Jul; 295(2):342-7. PubMed ID: 12150954
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [The influence of mitochondrial haplogroup on Leber's hereditary optic neuropathy].
    Mao YJ; Qu J; Guan MX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):45-9. PubMed ID: 18247303
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
    Valentino ML; Barboni P; Ghelli A; Bucchi L; Rengo C; Achilli A; Torroni A; Lugaresi A; Lodi R; Barbiroli B; Dotti M; Federico A; Baruzzi A; Carelli V
    Ann Neurol; 2004 Nov; 56(5):631-41. PubMed ID: 15505787
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.
    Catarino CB; Ahting U; Gusic M; Iuso A; Repp B; Peters K; Biskup S; von Livonius B; Prokisch H; Klopstock T
    Mitochondrion; 2017 Sep; 36():15-20. PubMed ID: 27721048
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.
    Jiang P; Liang M; Zhang J; Gao Y; He Z; Yu H; Zhao F; Ji Y; Liu X; Zhang M; Fu Q; Tong Y; Sun Y; Zhou X; Huang T; Qu J; Guan MX
    Invest Ophthalmol Vis Sci; 2015 Jul; 56(8):4778-88. PubMed ID: 26218905
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development.
    Karaarslan C
    Adv Ther; 2019 Dec; 36(12):3299-3307. PubMed ID: 31605306
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 11(2):115-8. PubMed ID: 17254817
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [LHON (Leber's hereditary optic neuropathy)].
    Mashima Y
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():282-6. PubMed ID: 12013866
    [No Abstract]   [Full Text] [Related]  

  • 16. Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy.
    Kumar M; Kaur P; Kumar M; Saxena R; Sharma P; Dada R
    Mol Vis; 2012; 18():2687-99. PubMed ID: 23170061
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
    Jiang P; Jin X; Peng Y; Wang M; Liu H; Liu X; Zhang Z; Ji Y; Zhang J; Liang M; Zhao F; Sun YH; Zhang M; Zhou X; Chen Y; Mo JQ; Huang T; Qu J; Guan MX
    Hum Mol Genet; 2016 Feb; 25(3):584-96. PubMed ID: 26647310
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.
    Zhang S; Wang L; Hao Y; Wang P; Hao P; Yin K; Wang QK; Liu M
    Mitochondrion; 2008 Jun; 8(3):205-10. PubMed ID: 18440284
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Leber's hereditary optic neuropathy with the 3434, 9011 mitochondrial DNA point mutation.
    Shidara K; Wakakura M
    Jpn J Ophthalmol; 2012 Mar; 56(2):175-80. PubMed ID: 22183138
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.