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Journal Abstract Search

368 related items for PubMed ID: 20054342

  • 1. A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
    Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A.
    J Invest Dermatol; 2010 Jun; 130(6):1537-42. PubMed ID: 20054342
    [Abstract] [Full Text] [Related]

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  • 3. Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.
    Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A.
    J Dermatol; 2012 Apr; 39(4):382-4. PubMed ID: 22211393
    [Abstract] [Full Text] [Related]

  • 4. Founder mutations in xeroderma pigmentosum.
    Tamura D, DiGiovanna JJ, Kraemer KH.
    J Invest Dermatol; 2010 Jun; 130(6):1491-3. PubMed ID: 20463673
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  • 5. 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; 49(5):544-8. PubMed ID: 20534089
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  • 6. 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
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  • 7. Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
    Schäfer A, Hofmann L, Gratchev A, Laspe P, Schubert S, Schürer A, Ohlenbusch A, Tzvetkov M, Hallermann C, Reichrath J, Schön MP, Emmert S.
    Exp Dermatol; 2013 Jan 01; 22(1):24-9. PubMed ID: 23173980
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  • 8. 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
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  • 9. Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
    Tamhankar PM, Iyer SV, Ravindran S, Gupta N, Kabra M, Nayak C, Kura M, Sanghavi S, Joshi R, Chennuri VS, Khopkar U.
    Indian J Dermatol Venereol Leprol; 2015 Jan 01; 81(1):16-22. PubMed ID: 25566891
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 32(5):832-839. PubMed ID: 29178624
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  • 12. Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
    Sun Z, Zhang J, Guo Y, Ni C, Liang J, Cheng R, Li M, Yao Z.
    Br J Dermatol; 2015 Apr 01; 172(4):1096-102. PubMed ID: 25256075
    [Abstract] [Full Text] [Related]

  • 13. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
    Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH.
    Carcinogenesis; 2006 Jan 01; 27(1):84-94. PubMed ID: 16081512
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  • 14. 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]

  • 15. 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 01; 59(1):18-21. PubMed ID: 29569758
    [Abstract] [Full Text] [Related]

  • 16. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
    Chavanne F, Broughton BC, Pietra D, Nardo T, Browitt A, Lehmann AR, Stefanini M.
    Cancer Res; 2000 Apr 01; 60(7):1974-82. PubMed ID: 10766188
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  • 18. 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]

  • 19. A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
    Doubaj Y, Smaili W, Laarabi FZ, Sefiani A.
    J Med Case Rep; 2017 Jun 15; 11(1):158. PubMed ID: 28615033
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  • 20. A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
    Cartault F, Nava C, Malbrunot AC, Munier P, Hebert JC, N'guyen P, Djeridi N, Pariaud P, Pariaud J, Dupuy A, Austerlitz F, Sarasin A.
    DNA Repair (Amst); 2011 Jun 10; 10(6):577-85. PubMed ID: 21482201
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