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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.
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.
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.
Growth and nutrition in children with trichothiodystrophy.
Atkinson EC, Thiara D, Tamura D, DiGiovanna JJ, Kraemer KH, Hadigan C. Atkinson EC, et al. Among authors: digiovanna jj. J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):458-64. doi: 10.1097/MPG.0000000000000458. J Pediatr Gastroenterol Nutr. 2014. PMID: 24918982 Free PMC article.
Trichothiodystrophy hair shafts display distinct ultrastructural features.
Ioannidis AD, Khan SG, Tamura D, DiGiovanna JJ, Rizza E, Kraemer KH, Rice RH. Ioannidis AD, et al. Among authors: digiovanna jj. Exp Dermatol. 2022 Aug;31(8):1270-1275. doi: 10.1111/exd.14614. Epub 2022 Jun 13. Exp Dermatol. 2022. PMID: 35615778 Free PMC article.
185 results