Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Syndrome and ERCC8[original query] |
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High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. American journal of medical genetics. Part A 2010 Dec 152A (12): 3091-4. Khayat Morad, Hardouf Hagar, Zlotogora Joel, Shalev Stavit All |
Xeroderma pigmentosum complementation group C single-nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression-free survival in advanced ovarian cancer. Cancer 2012 Feb 118 (3): 689-97. Fleming Nicole D, Agadjanian Hasmik, Nassanian Hoorig, Miller Carl W, Orsulic Sandra, Karlan Beth Y, Walsh Christine |
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. Scientific reports 2017 Oct 7 (1): 13686. Wang Xiaozhu, Huang Yu, Yan Ming, Li Jiuwei, Ding Changhong, Jin Hong, Fang Fang, Yang Yanling, Wu Baiyan, Chen Dafa |
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis. Scientific reports 2024 8 14 (1): 19741. Daisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, Hisato Suzuki, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Toshiki Takenouchi, Mamiko Yamada, Daisuke Nakato, Masayuki Sato, Tatsuhiko Tsunoda, Kenjiro Kosaki, Fuyuki Mi |
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