These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

330 related articles for article (PubMed ID: 8016139)

  • 41. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
    Johns DR; Berman J
    Biochem Biophys Res Commun; 1991 Feb; 174(3):1324-30. PubMed ID: 1900003
    [TBL] [Abstract][Full Text] [Related]  

  • 42. mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia.
    Howell N; Kubacka I; McDonough B; Hodess AB; Harter DH
    Am J Med Genet; 2001 May; 100(3):219-22. PubMed ID: 11343307
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
    Caporali L; Ghelli AM; Iommarini L; Maresca A; Valentino ML; La Morgia C; Liguori R; Zanna C; Barboni P; De Nardo V; Martinuzzi A; Rizzo G; Tonon C; Lodi R; Calvaruso MA; Cappelletti M; Porcelli AM; Achilli A; Pala M; Torroni A; Carelli V
    Biochim Biophys Acta; 2013 Mar; 1832(3):445-52. PubMed ID: 23246842
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
    Huoponen K; Vilkki J; Aula P; Nikoskelainen EK; Savontaus ML
    Am J Hum Genet; 1991 Jun; 48(6):1147-53. PubMed ID: 1674640
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.
    Kim JY; Hwang JM; Park SS
    Ann Neurol; 2002 May; 51(5):630-4. PubMed ID: 12112111
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.
    Juvonen V; Nikoskelainen E; Lamminen T; Penttinen M; Aula P; Savontaus ML
    Hum Mutat; 1997; 9(5):412-7. PubMed ID: 9143920
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Leber's hereditary optic neuropathy and complex I deficiency in muscle.
    Larsson NG; Andersen O; Holme E; Oldfors A; Wahlström J
    Ann Neurol; 1991 Nov; 30(5):701-8. PubMed ID: 1763894
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.
    Hofmann S; Bezold R; Jaksch M; Obermaier-Kusser B; Mertens S; Kaufhold P; Rabl W; Hecker W; Gerbitz KD
    Genomics; 1997 Jan; 39(1):8-18. PubMed ID: 9027481
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.
    Gropman A; Chen TJ; Perng CL; Krasnewich D; Chernoff E; Tifft C; Wong LJ
    Am J Med Genet A; 2004 Feb; 124A(4):377-82. PubMed ID: 14735585
    [TBL] [Abstract][Full Text] [Related]  

  • 52. 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]  

  • 53. Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India.
    Khan NA; Govindaraj P; Soumittra N; Srilekha S; Ambika S; Vanniarajan A; Meena AK; Uppin MS; Sundaram C; Taly AB; Bindu PS; Gayathri N; Thangaraj K
    Invest Ophthalmol Vis Sci; 2013 Jun; 54(6):3999-4005. PubMed ID: 23674761
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.
    Cavelier L; Gyllensten U; Dahl N
    Clin Genet; 1993 Feb; 43(2):69-72. PubMed ID: 8448903
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.
    Kim IS; Ki CS; Park KJ
    J Korean Med Sci; 2010 Jan; 25(1):180-4. PubMed ID: 20052369
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Mitochondrial DNA mutation in Leber's hereditary optic neuropathy.
    Yen MY; Yen TC; Pang CY; Liu JH; Wei YH
    Invest Ophthalmol Vis Sci; 1992 Jul; 33(8):2561-6. PubMed ID: 1634353
    [TBL] [Abstract][Full Text] [Related]  

  • 57. The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family.
    Yang J; Zhu Y; Tong Y; Zhang Z; Chen L; Chen S; Cao Z; Liu C; Xu J; Ma X
    Mitochondrion; 2009 Jul; 9(4):273-8. PubMed ID: 19394449
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [Molecular genetic analysis of Leber's hereditary optic neuropathy with the 3460 mutation in Japanese pedigrees].
    Hiida Y; Mashima Y; Saga M; Shuu M; Akiya S; Kudoh J; Shimizu N; Oguchi Y
    Nippon Ganka Gakkai Zasshi; 1995 Jun; 99(6):728-34. PubMed ID: 7611010
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [Multiple sclerosis and Leber's hereditary optic neuropathy mitochondrial DNA mutations].
    PĂ©nisson-Besnier I; Moreau C; Jacques C; Roger JC; Dubas F; Reynier P
    Rev Neurol (Paris); 2001 May; 157(5):537-41. PubMed ID: 11438773
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.
    Brown MD; Sun F; Wallace DC
    Am J Hum Genet; 1997 Feb; 60(2):381-7. PubMed ID: 9012411
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.