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Journal Abstract Search

252 related items for PubMed ID: 16792756

  • 1. A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma.
    Sidwell RU, Sandison A, Wing J, Fawcett HD, Seet JE, Fisher C, Nardo T, Stefanini M, Lehmann AR, Cream JJ.
    Br J Dermatol; 2006 Jul; 155(1):81-8. PubMed ID: 16792756
    [Abstract] [Full Text] [Related]

  • 2. Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum.
    Cleaver JE.
    J Dermatol Sci; 2000 May; 23(1):1-11. PubMed ID: 10699759
    [Abstract] [Full Text] [Related]

  • 3. Spotlight on 'xeroderma pigmentosum'.
    Fassihi H.
    Photochem Photobiol Sci; 2013 Jan; 12(1):78-84. PubMed ID: 23132518
    [Abstract] [Full Text] [Related]

  • 4. Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.
    Amr K, Messaoud O, El Darouti M, Abdelhak S, El-Kamah G.
    Gene; 2014 Jan 01; 533(1):52-6. PubMed ID: 24135642
    [Abstract] [Full Text] [Related]

  • 5. Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.
    Muotri AR, Marchetto MC, Zerbini LF, Libermann TA, Ventura AM, Sarasin A, Menck CF.
    Hum Gene Ther; 2002 Oct 10; 13(15):1833-44. PubMed ID: 12396616
    [Abstract] [Full Text] [Related]

  • 6. Association between DNA repair-deficiency and high level of p53 mutations in melanoma of Xeroderma pigmentosum.
    Spatz A, Giglia-Mari G, Benhamou S, Sarasin A.
    Cancer Res; 2001 Mar 15; 61(6):2480-6. PubMed ID: 11289118
    [Abstract] [Full Text] [Related]

  • 7. Melanoma and other skin cancers in xeroderma pigmentosum patients and mutation in their cells.
    Takebe H, Nishigori C, Tatsumi K.
    J Invest Dermatol; 1989 May 15; 92(5 Suppl):236S-238S. PubMed ID: 2715657
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.
    Lehmann J, Schubert S, Schäfer A, Laspe P, Haenssle HA, Ohlenbusch A, Gratchev A, Emmert S.
    J Eur Acad Dermatol Venereol; 2015 Dec 15; 29(12):2479-82. PubMed ID: 25393472
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 107(4):647-53. PubMed ID: 8823375
    [Abstract] [Full Text] [Related]

  • 10. Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.
    Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, Boubaker S, Amouri A, Abdelhak S, Zghal M.
    Int J Dermatol; 2010 May 15; 49(5):544-8. PubMed ID: 20534089
    [Abstract] [Full Text] [Related]

  • 11. A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.
    van den Heuvel D, Kim M, Wondergem AP, van der Meer PJ, Witkamp M, Lambregtse F, Kim HS, Kan F, Apelt K, Kragten A, González-Prieto R, Vertegaal ACO, Yeo JE, Kim BG, van Doorn R, Schärer OD, Luijsterburg MS.
    Proc Natl Acad Sci U S A; 2023 Mar 14; 120(11):e2208860120. PubMed ID: 36893274
    [Abstract] [Full Text] [Related]

  • 12. Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.
    Pawsey SA, Magnus IA, Ramsay CA, Benson PF, Giannelli F.
    Q J Med; 1979 Apr 14; 48(190):179-210. PubMed ID: 504548
    [Abstract] [Full Text] [Related]

  • 13. High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene.
    Nakane H, Takeuchi S, Yuba S, Saijo M, Nakatsu Y, Murai H, Nakatsuru Y, Ishikawa T, Hirota S, Kitamura Y.
    Nature; 1995 Sep 14; 377(6545):165-8. PubMed ID: 7675085
    [Abstract] [Full Text] [Related]

  • 14. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
    Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, DiGiovanna JJ, Tucker MA, Kraemer KH.
    J Med Genet; 2011 Mar 14; 48(3):168-76. PubMed ID: 21097776
    [Abstract] [Full Text] [Related]

  • 15. Xeroderma pigmentosum.
    Lehmann AR, McGibbon D, Stefanini M.
    Orphanet J Rare Dis; 2011 Nov 01; 6():70. PubMed ID: 22044607
    [Abstract] [Full Text] [Related]

  • 16. An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.
    Takahashi Y, Endo Y, Kusaka-Kikushima A, Nakamaura S, Nakazawa Y, Ogi T, Uryu M, Tsuji G, Furue M, Moriwaki S.
    Br J Dermatol; 2017 Jul 01; 177(1):253-257. PubMed ID: 27603812
    [Abstract] [Full Text] [Related]

  • 17. UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency.
    Tanaka K, Kamiuchi S, Ren Y, Yonemasu R, Ichikawa M, Murai H, Yoshino M, Takeuchi S, Saijo M, Nakatsu Y, Miyauchi-Hashimoto H, Horio T.
    Mutat Res; 2001 Jun 02; 477(1-2):31-40. PubMed ID: 11376684
    [Abstract] [Full Text] [Related]

  • 18. [Xeroderma pigmentosum].
    Takeuchi S.
    Nihon Rinsho; 2000 Jul 02; 58(7):1496-500. PubMed ID: 10921330
    [Abstract] [Full Text] [Related]

  • 19. Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
    Espi P, Parajuli S, Benfodda M, Lebre AS, Paudel U, Grange A, Grybek V, Grange T, Soufir N, Grange F.
    J Eur Acad Dermatol Venereol; 2018 May 02; 32(5):832-839. PubMed ID: 29178624
    [Abstract] [Full Text] [Related]

  • 20. 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 02; 27(11):1092-103. PubMed ID: 16947863
    [Abstract] [Full Text] [Related]

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