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Journal Abstract Search

175 related items for PubMed ID: 9804340

  • 1. 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; 111(5):791-6. PubMed ID: 9804340
    [Abstract] [Full Text] [Related]

  • 2. 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; 117(2):197-204. PubMed ID: 11511294
    [Abstract] [Full Text] [Related]

  • 3. 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; 115(6):974-80. PubMed ID: 11121128
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
    Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH.
    Hum Mol Genet; 2004 Feb 01; 13(3):343-52. PubMed ID: 14662655
    [Abstract] [Full Text] [Related]

  • 6. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
    Khan SG, Oh KS, Emmert S, Imoto K, Tamura D, Digiovanna JJ, Shahlavi T, Armstrong N, Baker CC, Neuburg M, Zalewski C, Brewer C, Wiggs E, Schiffmann R, Kraemer KH.
    DNA Repair (Amst); 2009 Jan 01; 8(1):114-25. PubMed ID: 18955168
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 01; 32(5-6):276-283. PubMed ID: 27387384
    [Abstract] [Full Text] [Related]

  • 10. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
    Khan SG, Yamanegi K, Zheng ZM, Boyle J, Imoto K, Oh KS, Baker CC, Gozukara E, Metin A, Kraemer KH.
    Hum Mutat; 2010 Feb 01; 31(2):167-75. PubMed ID: 19953607
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
    Ali MZ, Blatterer J, Khan MA, Schaflinger E, Petek E, Ahmad S, Khan E, Windpassinger C.
    Mol Genet Genomic Med; 2020 Feb 10; 8(2):e1060. PubMed ID: 31923348
    [Abstract] [Full Text] [Related]

  • 13. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
    Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, Emmert S, Schneider TD, Kraemer KH.
    Nucleic Acids Res; 2002 Aug 15; 30(16):3624-31. PubMed ID: 12177305
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 27(11):1092-103. PubMed ID: 16947863
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. 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]

  • 18. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
    Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH.
    J Invest Dermatol; 2002 Jun 10; 118(6):972-82. PubMed ID: 12060391
    [Abstract] [Full Text] [Related]

  • 19. [Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C].
    Wang L, Huang S, Li J, Zou Y, Xu P, Gao M, Kang R, Xie H, Wei X, Niu Y, Liu X, Gao Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug 10; 35(4):540-543. PubMed ID: 30098252
    [Abstract] [Full Text] [Related]

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