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Journal Abstract Search

235 related items for PubMed ID: 23173980

  • 1. 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; 22(1):24-9. PubMed ID: 23173980
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

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

  • 4. 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 10; 27(1):84-94. PubMed ID: 16081512
    [Abstract] [Full Text] [Related]

  • 5. 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 10; 130(6):1537-42. PubMed ID: 20054342
    [Abstract] [Full Text] [Related]

  • 6. Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
    Schäfer A, Gratchev A, Seebode C, Hofmann L, Schubert S, Laspe P, Apel A, Ohlenbusch A, Tzvetkov M, Weishaupt C, Oji V, Schön MP, Emmert S.
    Exp Dermatol; 2013 Jul 10; 22(7):486-9. PubMed ID: 23800062
    [Abstract] [Full Text] [Related]

  • 7. High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
    Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M.
    J Hum Genet; 2009 Jul 10; 54(7):426-9. PubMed ID: 19478817
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 32(5):832-839. PubMed ID: 29178624
    [Abstract] [Full Text] [Related]

  • 9. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.
    Berneburg M, Clingen PH, Harcourt SA, Lowe JE, Taylor EM, Green MH, Krutmann J, Arlett CF, Lehmann AR.
    Cancer Res; 2000 Jan 15; 60(2):431-8. PubMed ID: 10667598
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 15; 48(190):179-210. PubMed ID: 504548
    [Abstract] [Full Text] [Related]

  • 12. A unique chromosomal in-frame deletion identified among seven XP-C patients.
    Schubert S, Rieper P, Ohlenbusch A, Seebode C, Lehmann J, Gratchev A, Emmert S.
    Photodermatol Photoimmunol Photomed; 2016 Sep 15; 32(5-6):276-283. PubMed ID: 27387384
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
    Rivera-Begeman A, McDaniel LD, Schultz RA, Friedberg EC.
    DNA Repair (Amst); 2007 Jan 04; 6(1):100-14. PubMed ID: 17079196
    [Abstract] [Full Text] [Related]

  • 15. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
    Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T, Coleman DM, Miller M, Chinsomboon N, Stefanini M, Kraemer KH.
    J Invest Dermatol; 2001 Aug 04; 117(2):197-204. PubMed ID: 11511294
    [Abstract] [Full Text] [Related]

  • 16. Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant.
    Gu Y, Chang X, Dai S, Song Q, Zhao H, Lei P.
    Gene; 2017 Sep 10; 628():162-169. PubMed ID: 28669926
    [Abstract] [Full Text] [Related]

  • 17. [Neurological manifestations and molecular basis of group A xeroderma pigmentosum].
    Mimaki T, Tanaka K, Nagai A, Mino M.
    Nihon Rinsho; 1993 Sep 10; 51(9):2488-93. PubMed ID: 8105118
    [Abstract] [Full Text] [Related]

  • 18. Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.
    Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH.
    J Invest Dermatol; 2000 Dec 10; 115(6):974-80. PubMed ID: 11121128
    [Abstract] [Full Text] [Related]

  • 19. Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
    Kobayashi T, Kuraoka I, Saijo M, Nakatsu Y, Tanaka A, Someda Y, Fukuro S, Tanaka K.
    Hum Mutat; 1997 Dec 10; 9(4):322-31. PubMed ID: 9101292
    [Abstract] [Full Text] [Related]

  • 20. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
    Khan SG, Levy HL, Legerski R, Quackenbush E, Reardon JT, Emmert S, Sancar A, Li L, Schneider TD, Cleaver JE, Kraemer KH.
    J Invest Dermatol; 1998 Nov 10; 111(5):791-6. PubMed ID: 9804340
    [Abstract] [Full Text] [Related]

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