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Page 1
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. Khan SG, et al. Among authors: digiovanna jj. Carcinogenesis. 2006 Jan;27(1):84-94. doi: 10.1093/carcin/bgi204. Epub 2005 Aug 4. Carcinogenesis. 2006. PMID: 16081512
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. Among authors: digiovanna jj. 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.
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: digiovanna jj. 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: digiovanna jj. 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.
Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.
Wang Y, Digiovanna JJ, Stern JB, Hornyak TJ, Raffeld M, Khan SG, Oh KS, Hollander MC, Dennis PA, Kraemer KH. Wang Y, et al. Among authors: digiovanna jj. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6279-84. doi: 10.1073/pnas.0812401106. Epub 2009 Mar 27. Proc Natl Acad Sci U S A. 2009. PMID: 19329485 Free PMC article.
Founder mutations in xeroderma pigmentosum.
Tamura D, DiGiovanna JJ, Kraemer KH. Tamura D, et al. Among authors: digiovanna jj. J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76. J Invest Dermatol. 2010. PMID: 20463673 Free PMC article.
Shining a light on xeroderma pigmentosum.
DiGiovanna JJ, Kraemer KH. DiGiovanna JJ, et al. J Invest Dermatol. 2012 Mar;132(3 Pt 2):785-96. doi: 10.1038/jid.2011.426. Epub 2012 Jan 5. J Invest Dermatol. 2012. PMID: 22217736 Free PMC article. Review.
186 results