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Journal Abstract Search

151 related items for PubMed ID: 10780785

  • 1. Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.
    van den Ouweland JM, de Klerk JB, van de Corput MP, Dirks RW, Raap AK, Scholte HR, Huijmans JG, Hart LM, Bruining GJ, Maassen JA.
    Eur J Hum Genet; 2000 Mar; 8(3):195-203. PubMed ID: 10780785
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  • 2. Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
    Houshmand M, Gardner A, Hällström T, Müntzing K, Oldfors A, Holme E.
    Neuromuscul Disord; 2004 Mar; 14(3):195-201. PubMed ID: 15036329
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  • 3. Detection of mitochondrial DNA deletions in human skin fibroblasts of patients with Pearson's syndrome by two-color fluorescence in situ hybridization.
    van de Corput MP, van den Ouweland JM, Dirks RW, Hart LM, Bruining GJ, Maassen JA, Raap AK.
    J Histochem Cytochem; 1997 Jan; 45(1):55-61. PubMed ID: 9010469
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  • 4. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells.
    Santra S, Gilkerson RW, Davidson M, Schon EA.
    Ann Neurol; 2004 Nov; 56(5):662-9. PubMed ID: 15389892
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  • 5. Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).
    Pitchon EM, Cachat F, Jacquemont S, Hinard C, Borruat FX, Schorderet DF, Morris MA, Munier FL.
    Klin Monbl Augenheilkd; 2007 Apr; 224(4):340-3. PubMed ID: 17458809
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  • 6. Heteroplasmic mutation of mitochondrial DNA D-loop and 4977-bp deletion in human cancer cells during mitochondrial DNA depletion.
    Lee HC, Hsu LS, Yin PH, Lee LM, Chi CW.
    Mitochondrion; 2007 Apr; 7(1-2):157-63. PubMed ID: 17280876
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  • 7. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion.
    Majander A, Suomalainen A, Vettenranta K, Sariola H, Perkkiö M, Holmberg C, Pihko H.
    Pediatr Res; 1991 Oct; 30(4):327-30. PubMed ID: 1956715
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  • 15. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.
    Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X.
    Hum Mutat; 2008 Feb; 29(2):248-57. PubMed ID: 17999439
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  • 16. Attenuation of UV-induced apoptosis by coenzyme Q10 in human cells harboring large-scale deletion of mitochondrial DNA.
    Lee CF, Liu CY, Chen SM, Sikorska M, Lin CY, Chen TL, Wei YH.
    Ann N Y Acad Sci; 2005 May; 1042():429-38. PubMed ID: 15965089
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  • 19. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
    Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A.
    Brain; 2006 May; 129(Pt 5):1249-59. PubMed ID: 16537564
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  • 20. Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.
    Atale A, Bonneau-Amati P, Rötig A, Fischer A, Perez-Martin S, de Lonlay P, Niaudet P, De Parscau L, Mousson C, Thauvin-Robinet C, Munnich A, Huet F, Faivre L.
    Eur J Med Genet; 2009 May; 52(1):23-6. PubMed ID: 19026771
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