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Journal Abstract Search

235 related items for PubMed ID: 8818951

  • 1. Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
    Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ.
    J Med Genet; 1996 Jul; 33(7):607-10. PubMed ID: 8818951
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  • 2. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
    Graham JM, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG.
    Am J Hum Genet; 2001 Aug; 69(2):291-300. PubMed ID: 11443545
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  • 3. DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells.
    Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH.
    J Invest Dermatol; 1996 Oct; 107(4):647-53. PubMed ID: 8823375
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  • 4. Cockayne syndrome and xeroderma pigmentosum.
    Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH.
    Neurology; 2000 Nov 28; 55(10):1442-9. PubMed ID: 11185579
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  • 5. Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
    Reid-Bayliss KS, Arron ST, Loeb LA, Bezrookove V, Cleaver JE.
    Proc Natl Acad Sci U S A; 2016 Sep 06; 113(36):10151-6. PubMed ID: 27543334
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  • 6. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
    Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J.
    Am J Hum Genet; 1995 Jan 06; 56(1):167-74. PubMed ID: 7825573
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  • 8. Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells.
    Vélez-Cruz R, Zadorin AS, Coin F, Egly JM.
    Proc Natl Acad Sci U S A; 2013 Jan 15; 110(3):E212-20. PubMed ID: 23267107
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  • 9. Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes.
    Carreau M, Eveno E, Quilliet X, Chevalier-Lagente O, Benoit A, Tanganelli B, Stefanini M, Vermeulen W, Hoeijmakers JH, Sarasin A.
    Carcinogenesis; 1995 May 15; 16(5):1003-9. PubMed ID: 7767957
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  • 11. Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
    Kondo D, Noguchi A, Tamura H, Tsuchida S, Takahashi I, Kubota H, Yano T, Oyama C, Sawaishi Y, Moriwaki S, Takahashi T.
    Tohoku J Exp Med; 2016 Jul 15; 239(3):231-5. PubMed ID: 27396511
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  • 12. Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription.
    van Hoffen A, Kalle WH, de Jong-Versteeg A, Lehmann AR, van Zeeland AA, Mullenders LH.
    Nucleic Acids Res; 1999 Jul 15; 27(14):2898-904. PubMed ID: 10390531
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  • 14. Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
    Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH.
    Am J Hum Genet; 1993 Jul 15; 53(1):185-92. PubMed ID: 8317483
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  • 15. A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations.
    Itoh T, Ono T, Yamaizumi M.
    Mutat Res; 1994 May 15; 314(3):233-48. PubMed ID: 7513056
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  • 18. Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells.
    Balajee AS, Dianova I, Bohr VA.
    Nucleic Acids Res; 1999 Nov 15; 27(22):4476-82. PubMed ID: 10536158
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  • 19. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.
    Nouspikel T, Lalle P, Leadon SA, Cooper PK, Clarkson SG.
    Proc Natl Acad Sci U S A; 1997 Apr 01; 94(7):3116-21. PubMed ID: 9096355
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  • 20. Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.
    Theron T, Fousteri MI, Volker M, Harries LW, Botta E, Stefanini M, Fujimoto M, Andressoo JO, Mitchell J, Jaspers NG, McDaniel LD, Mullenders LH, Lehmann AR.
    Mol Cell Biol; 2005 Sep 01; 25(18):8368-78. PubMed ID: 16135823
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