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539 related items for PubMed ID: 29178624

  • 21. A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.
    Ono R, Masaki T, Mayca Pozo F, Nakazawa Y, Swagemakers SM, Nakano E, Sakai W, Takeuchi S, Kanda F, Ogi T, van der Spek PJ, Sugasawa K, Nishigori C.
    Photodermatol Photoimmunol Photomed; 2016 Jul; 32(4):174-80. PubMed ID: 26993158
    [Abstract] [Full Text] [Related]

  • 22. Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
    Messaoud O, Rekaya MB, Ouragini H, Benfadhel S, Azaiez H, Kefi R, Gouider-Khouja N, Mokhtar I, Amouri A, Boubaker MS, Zghal M, Abdelhak S.
    Arch Dermatol Res; 2012 Mar; 304(2):171-6. PubMed ID: 22081045
    [Abstract] [Full Text] [Related]

  • 23. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.
    Ijaz A, Basit S, Gul A, Batool L, Hussain A, Afzal S, Ramzan K, Ahmad J, Wali A.
    Congenit Anom (Kyoto); 2019 Jan; 59(1):18-21. PubMed ID: 29569758
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  • 24. 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
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  • 26. Xeroderma pigmentosum genes and melanoma risk.
    Paszkowska-Szczur K, Scott RJ, Serrano-Fernandez P, Mirecka A, Gapska P, Górski B, Cybulski C, Maleszka R, Sulikowski M, Nagay L, Lubinski J, Dębniak T.
    Int J Cancer; 2013 Sep 01; 133(5):1094-100. PubMed ID: 23436679
    [Abstract] [Full Text] [Related]

  • 27. Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.
    Kobayashi T, Uchiyama M, Fukuro S, Tanaka K.
    Am J Med Genet; 2002 Jul 01; 110(3):248-52. PubMed ID: 12116233
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  • 28. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum.
    Kraemer KH, Lee MM, Scotto J.
    Carcinogenesis; 1984 Apr 01; 5(4):511-4. PubMed ID: 6705149
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  • 29. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
    Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC.
    Hum Mol Genet; 1994 Oct 01; 3(10):1783-8. PubMed ID: 7849702
    [Abstract] [Full Text] [Related]

  • 30. Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.
    Alwatban L, Binamer Y.
    Ann Saudi Med; 2017 Oct 01; 37(3):240-244. PubMed ID: 28578364
    [Abstract] [Full Text] [Related]

  • 31. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
    Santiago KM, Castro LP, Neto JPD, de Nóbrega AF, Pinto CAL, Ashton-Prolla P, Pinto E Vairo F, de Medeiros PFV, Ribeiro EM, Ribeiro BFR, do Valle FF, Doriqui MJR, Leite CHB, Rocha RM, Moura LMS, Munford V, Galante PAF, Menck CFM, Rogatto SR, Achatz MI.
    J Eur Acad Dermatol Venereol; 2020 Oct 01; 34(10):2392-2401. PubMed ID: 32239545
    [Abstract] [Full Text] [Related]

  • 32. Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
    Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH.
    Exp Dermatol; 2009 Jan 01; 18(1):64-8. PubMed ID: 18637129
    [Abstract] [Full Text] [Related]

  • 33. c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.
    Senhaji MA, Abidi O, Nadifi S, Benchikhi H, Khadir K, Ben Rekaya M, Eloualid A, Messaoud O, Abdelhak S, Barakat A.
    Arch Dermatol Res; 2013 Jan 01; 305(1):53-57. PubMed ID: 23143338
    [Abstract] [Full Text] [Related]

  • 34. Neurological symptoms and natural course of xeroderma pigmentosum.
    Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, Erkinjuntti M, Jaspers NG, Raams A, Green MH, Lehmann AR, Wing JF, Arlett CF, Marttila RJ.
    Brain; 2008 Aug 01; 131(Pt 8):1979-89. PubMed ID: 18567921
    [Abstract] [Full Text] [Related]

  • 35. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
    Takayama K, Salazar EP, Lehmann A, Stefanini M, Thompson LH, Weber CA.
    Cancer Res; 1995 Dec 01; 55(23):5656-63. PubMed ID: 7585650
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  • 38.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Kraemer KH, DiGiovanna JJ, Tamura D.
    ; 1993 Dec 01. PubMed ID: 20301571
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  • 39. Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient.
    Soufir N, Ribojad M, Magnaldo T, Thibaudeau O, Delestaing G, Daya-Grosjean L, Rivet J, Sarasin A, Basset-Seguin N.
    J Invest Dermatol; 2002 Dec 01; 119(6):1355-60. PubMed ID: 12485439
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  • 40. Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients.
    Couvé-Privat S, Bouadjar B, Avril MF, Sarasin A, Daya-Grosjean L.
    Cancer Res; 2002 Dec 15; 62(24):7186-9. PubMed ID: 12499255
    [Abstract] [Full Text] [Related]

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