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Page 1
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. Emmert S, et al. J Invest Dermatol. 2002 Jun;118(6):972-82. doi: 10.1046/j.1523-1747.2002.01782.x. J Invest Dermatol. 2002. PMID: 12060391 Free article.
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. Khan SG, et al. Among authors: emmert s. Nucleic Acids Res. 2002 Aug 15;30(16):3624-31. doi: 10.1093/nar/gkf469. Nucleic Acids Res. 2002. PMID: 12177305 Free PMC article.
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
Inui H, Oh KS, Nadem C, Ueda T, Khan SG, Metin A, Gozukara E, Emmert S, Slor H, Busch DB, Baker CC, DiGiovanna JJ, Tamura D, Seitz CS, Gratchev A, Wu WH, Chung KY, Chung HJ, Azizi E, Woodgate R, Schneider TD, Kraemer KH. Inui H, et al. Among authors: emmert s. J Invest Dermatol. 2008 Aug;128(8):2055-68. doi: 10.1038/jid.2008.48. Epub 2008 Mar 27. J Invest Dermatol. 2008. PMID: 18368133 Free PMC article.
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. Khan SG, et al. Among authors: emmert s. DNA Repair (Amst). 2009 Jan 1;8(1):114-25. doi: 10.1016/j.dnarep.2008.09.007. Epub 2008 Nov 14. DNA Repair (Amst). 2009. PMID: 18955168 Free PMC article.
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. Bradford PT, et al. Among authors: emmert s. J Med Genet. 2011 Mar;48(3):168-76. doi: 10.1136/jmg.2010.083022. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097776 Free PMC article.
265 results