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Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.
Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, Shi Y, Li X, Hao J, Luo Y, Shang D, Lv D, Ma F, Zhang D, Hua R, Lu C, Wen Y, Cao L, Irvine AD, McLean WH, Dong Q, Wang MR, Yu J, He L, Lo WH, Zhang X. Sun M, et al. Among authors: liu q. Am J Hum Genet. 2009 Jun;84(6):807-13. doi: 10.1016/j.ajhg.2009.04.018. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463983 Free PMC article.
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Among authors: liu y, liu q. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.
Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L, Patel PI, Jing T, Zhang X. Zhu H, et al. Among authors: liu y, liu q. Am J Hum Genet. 2011 Jun 10;88(6):819-826. doi: 10.1016/j.ajhg.2011.05.004. Am J Hum Genet. 2011. PMID: 21636067 Free PMC article.
Re-evaluation of PRRT2 mutations in paroxysmal disorders.
Guo XN, Lu Q, Zhou XQ, Liu Q, Zhang X, Cui LY. Guo XN, et al. Among authors: liu q. J Neurol. 2014 May;261(5):951-3. doi: 10.1007/s00415-014-7305-z. Epub 2014 Mar 9. J Neurol. 2014. PMID: 24609974
ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.
Zhang K, Liu Q, Liu K, Shen D, Tai H, Shu S, Ding Q, Fu H, Liu S, Wang Z, Li X, Liu M, Zhang X, Cui L. Zhang K, et al. Among authors: liu k, liu m, liu s, liu q. Neurol Genet. 2018 May 22;4(3):e237. doi: 10.1212/NXG.0000000000000237. eCollection 2018 Jun. Neurol Genet. 2018. PMID: 29845112 Free PMC article.
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