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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.
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: digiovanna jj. 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.
Ocular manifestations of trichothiodystrophy.
Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH. Brooks BP, et al. Among authors: digiovanna jj. Ophthalmology. 2011 Dec;118(12):2335-42. doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28. Ophthalmology. 2011. PMID: 21959366 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.
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH. Brooks BP, et al. Among authors: digiovanna jj. Ophthalmology. 2013 Jul;120(7):1324-36. doi: 10.1016/j.ophtha.2012.12.044. Epub 2013 Apr 16. Ophthalmology. 2013. PMID: 23601806 Free PMC article.
185 results