Artykuły udostępnione publicznie: - Jennifer BoyleWięcej informacji
Dostępne w jakimś miejscu: 11
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
PT Bradford, AM Goldstein, D Tamura, SG Khan, T Ueda, J Boyle, KS Oh, ...
Journal of medical genetics 48 (3), 168-176, 2011
Upoważnienia: US National Institutes of Health
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage
BP Brooks, AH Thompson, RJ Bishop, JA Clayton, CC Chan, ET Tsilou, ...
Ophthalmology 120 (7), 1324-1336, 2013
Upoważnienia: US National Institutes of Health
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer‐prone xeroderma pigmentosum vs. non …
J Boyle, T Ueda, KS Oh, K Imoto, D Tamura, J Jagdeo, SG Khan, ...
Human mutation 29 (10), 1194-1208, 2008
Upoważnienia: US National Institutes of Health
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development
R Moslehi, C Signore, D Tamura, JL Mills, JJ Digiovanna, MA Tucker, ...
Clinical genetics 77 (4), 365-373, 2010
Upoważnienia: US National Institutes of Health
Ocular manifestations of trichothiodystrophy
BP Brooks, AH Thompson, JA Clayton, CC Chan, D Tamura, WM Zein, ...
Ophthalmology 118 (12), 2335-2342, 2011
Upoważnienia: US National Institutes of Health
High‐risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies
D Tamura, M Merideth, JJ DiGiovanna, X Zhou, MA Tucker, AM Goldstein, ...
Prenatal diagnosis 31 (11), 1046-1053, 2011
Upoważnienia: US National Institutes of Health
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum
X Zhou, SG Khan, D Tamura, T Ueda, J Boyle, E Compe, JM Egly, ...
European Journal of Human Genetics 21 (8), 831-837, 2013
Upoważnienia: US National Institutes of Health
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c. 2009delG mutation in XPD (ERCC2)
S Emmert, T Ueda, U Zumsteg, P Weber, SG Khan, KS Oh, J Boyle, ...
Experimental dermatology 18 (1), 64-68, 2009
Upoważnienia: US National Institutes of Health, German Research Foundation
Effect of mutations in XPD (ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum
D Tamura, SG Khan, M Merideth, JJ DiGiovanna, MA Tucker, ...
European journal of human genetics 20 (12), 1308-1310, 2012
Upoważnienia: US National Institutes of Health
XPC branch‐point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre‐mRNA splicing in xeroderma pigmentosum patients
SG Khan, K Yamanegi, ZM Zheng, J Boyle, K Imoto, KS Oh, CC Baker, ...
Human mutation 31 (2), 167-175, 2010
Upoważnienia: US National Institutes of Health
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew
S Christen-Zaech, K Imoto, SG Khan, KS Oh, D Tamura, JJ DiGiovanna, ...
Archives of dermatology 145 (11), 1285-1291, 2009
Upoważnienia: US National Institutes of Health
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