BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 2375642)

  • 21. Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?
    Moraes CT; Zeviani M; Schon EA; Hickman RO; Vlcek BW; DiMauro S
    Am J Med Genet; 1991 Dec; 41(3):301-5. PubMed ID: 1789283
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo"].
    Midro AT; Zalewska R; Skrzypczak-Adamiak G; Wilichowski E
    Klin Oczna; 1995 Jun; 97(6):203-6. PubMed ID: 7643565
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.
    Suomalainen A; Majander A; Haltia M; Somer H; Lönnqvist J; Savontaus ML; Peltonen L
    J Clin Invest; 1992 Jul; 90(1):61-6. PubMed ID: 1634620
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.
    Nelson I; Degoul F; Obermaier-Kusser B; Romero N; Borrone C; Marsac C; Vayssiere JL; Gerbitz K; Fardeau M; Ponsot G; Lestienne P
    Nucleic Acids Res; 1989 Oct; 17(20):8117-24. PubMed ID: 2813058
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia.
    Ville-Ferlin T; Dumoulin R; Stepien G; Matha V; Bady B; Flocard F; Carrier H; Mathieu M; Mousson B
    Mol Cell Probes; 1995 Jun; 9(3):207-14. PubMed ID: 7477015
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia.
    Reichmann H; Degoul F; Gold R; Meurers B; Ketelsen UP; Hartmann J; Marsac C; Lestienne P
    Eur Neurol; 1991; 31(2):108-13. PubMed ID: 1646110
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation.
    Barthélémy C; Ogier de Baulny H; Diaz J; Cheval MA; Frachon P; Romero N; Goutieres F; Fardeau M; Lombès A
    Ann Neurol; 2001 May; 49(5):607-17. PubMed ID: 11357951
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion.
    Vázquez-Acevedo M; Vázquez-Memije ME; Mutchinick OM; Morales JJ; García-Ramos G; González-Halphen D
    Neurol Sci; 2002 Dec; 23(5):247-50. PubMed ID: 12522683
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies.
    Degoul F; Nelson I; Lestienne P; Francois D; Romero N; Duboc D; Eymard B; Fardeau M; Ponsot G; Paturneau-Jouas M
    J Neurol Sci; 1991 Feb; 101(2):168-77. PubMed ID: 1851820
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA.
    Holt IJ; Harding AE; Cooper JM; Schapira AH; Toscano A; Clark JB; Morgan-Hughes JA
    Ann Neurol; 1989 Dec; 26(6):699-708. PubMed ID: 2604380
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes.
    Gerbitz KD; Obermaier-Kusser B; Zierz S; Pongratz D; Müller-Höcker J; Lestienne P
    J Neurol; 1990 Feb; 237(1):5-10. PubMed ID: 2156958
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy.
    Kosmorsky G; Johns DR
    Neurol Clin; 1991 Feb; 9(1):147-61. PubMed ID: 2011107
    [No Abstract]   [Full Text] [Related]  

  • 33. Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.
    Shanske S; Moraes CT; Lombes A; Miranda AF; Bonilla E; Lewis P; Whelan MA; Ellsworth CA; DiMauro S
    Neurology; 1990 Jan; 40(1):24-8. PubMed ID: 2296377
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Progressive external ophthalmoplegia of mitochondrial origin: contribution of morphological and molecular studies].
    Laforêt P; Eymard B; Danan C; Chevallay M; Rouche A; Frachon P; Fardeau M; Lombès A
    Rev Neurol (Paris); 1997 Feb; 153(1):51-8. PubMed ID: 9296156
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation.
    Tabaku M; Legius E; Robberecht W; Sciot R; Fryns JP; Cassiman JJ; Matthijs G
    Genet Couns; 1999; 10(3):285-93. PubMed ID: 10546101
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome.
    Klopstock T; Bischof F; Gerok K; Deuschl G; Seibel P; Ketelsen UP; Reichmann H
    Acta Neuropathol; 1995; 90(2):126-9. PubMed ID: 7484086
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population.
    Remes AM; Majamaa-Voltti K; Kärppä M; Moilanen JS; Uimonen S; Helander H; Rusanen H; Salmela PI; Sorri M; Hassinen IE; Majamaa K
    Neurology; 2005 Mar; 64(6):976-81. PubMed ID: 15781811
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.
    Shoffner JM; Lott MT; Voljavec AS; Soueidan SA; Costigan DA; Wallace DC
    Proc Natl Acad Sci U S A; 1989 Oct; 86(20):7952-6. PubMed ID: 2554297
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.
    Moraes CT; Schon EA; DiMauro S; Miranda AF
    Biochem Biophys Res Commun; 1989 Apr; 160(2):765-71. PubMed ID: 2541710
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.
    Nakase H; Moraes CT; Rizzuto R; Lombes A; DiMauro S; Schon EA
    Am J Hum Genet; 1990 Mar; 46(3):418-27. PubMed ID: 1689952
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.