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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. 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.
Structural and molecular hair abnormalities in trichothiodystrophy.
Liang C, Morris A, Schlücker S, Imoto K, Price VH, Menefee E, Wincovitch SM, Levin IW, Tamura D, Strehle KR, Kraemer KH, DiGiovanna JJ. Liang C, et al. Among authors: digiovanna jj. J Invest Dermatol. 2006 Oct;126(10):2210-6. doi: 10.1038/sj.jid.5700384. Epub 2006 May 25. J Invest Dermatol. 2006. PMID: 16728971 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.
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.
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
Tamura D, Merideth M, DiGiovanna JJ, Zhou X, Tucker MA, Goldstein AM, Brooks BP, Khan SG, Oh KS, Ueda T, Boyle J, Moslehi R, Kraemer KH. Tamura D, et al. Among authors: digiovanna jj. Prenat Diagn. 2011 Nov;31(11):1046-53. doi: 10.1002/pd.2829. Epub 2011 Jul 29. Prenat Diagn. 2011. PMID: 21800331 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.
185 results