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205 related items for PubMed ID: 1372469

  • 1. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
    Greenhaw GA, Hebert A, Duke-Woodside ME, Butler IJ, Hecht JT, Cleaver JE, Thomas GH, Horton WA.
    Am J Hum Genet; 1992 Apr; 50(4):677-89. PubMed ID: 1372469
    [Abstract] [Full Text] [Related]

  • 2. Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype.
    Itoh T, Cleaver JE, Yamaizumi M.
    Hum Genet; 1996 Feb; 97(2):176-9. PubMed ID: 8566949
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 28; 314(3):233-48. PubMed ID: 7513056
    [Abstract] [Full Text] [Related]

  • 5. 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 28; 107(4):647-53. PubMed ID: 8823375
    [Abstract] [Full Text] [Related]

  • 6. The Cockayne syndrome--an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Comparison with xeroderma pigmentosum.
    Otsuka F, Robbins JH.
    Am J Dermatopathol; 1985 Aug 28; 7(4):387-92. PubMed ID: 3842793
    [No Abstract] [Full Text] [Related]

  • 7. Xeroderma pigmentosum variant with multisystem involvement.
    Hessel A, Siegle RJ, Mitchell DL, Cleaver JE.
    Arch Dermatol; 1992 Sep 28; 128(9):1233-7. PubMed ID: 1519938
    [Abstract] [Full Text] [Related]

  • 8. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
    Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH.
    Hum Mutat; 2006 Nov 28; 27(11):1092-103. PubMed ID: 16947863
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  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.
    Itoh T.
    J Dermatol Sci; 2006 Feb 15; 41(2):87-96. PubMed ID: 16325378
    [Abstract] [Full Text] [Related]

  • 12.
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  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.
    Cleaver JE, Volpe JP, Charles WC, Thomas GH.
    Prenat Diagn; 1994 Oct 15; 14(10):921-8. PubMed ID: 7534923
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 69(2):291-300. PubMed ID: 11443545
    [Abstract] [Full Text] [Related]

  • 17. Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case.
    Metlo A, Rehan A, Akmal M, Iqbal U, Jamali M.
    J Pak Med Assoc; 2018 Oct 15; 68(10):1531-1534. PubMed ID: 30317357
    [Abstract] [Full Text] [Related]

  • 18. [Xeroderma pigmentosum and related syndromes].
    Berneburg M, Krutmann J.
    Hautarzt; 2003 Jan 15; 54(1):33-40. PubMed ID: 12567255
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 25(18):8368-78. PubMed ID: 16135823
    [Abstract] [Full Text] [Related]

  • 20. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
    Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M.
    Hum Mol Genet; 2000 May 01; 9(8):1171-5. PubMed ID: 10767341
    [Abstract] [Full Text] [Related]

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