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966 results

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Page 1
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ. Zhang X, et al. Among authors: hu jc. J Med Genet. 2012 Dec;49(12):727-30. doi: 10.1136/jmedgenet-2012-101134. Epub 2012 Oct 25. J Med Genet. 2012. PMID: 23099647 Free PMC article.
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ. Zhang SQ, et al. Among authors: hu jc, hu x, hu zm. Nat Genet. 2012 Oct;44(10):1156-60. doi: 10.1038/ng.2409. Epub 2012 Sep 16. Nat Genet. 2012. PMID: 22983302
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
Quadri M, Yang X, Cossu G, Olgiati S, Saddi VM, Breedveld GJ, Ouyang L, Hu J, Xu N, Graafland J, Ricchi V, Murgia D, Guedes LC, Mariani C, Marti MJ, Tarantino P, Asselta R, Valldeoriola F, Gagliardi M, Pezzoli G, Ezquerra M, Quattrone A, Ferreira J, Annesi G, Goldwurm S, Tolosa E, Oostra BA, Melis M, Wang J, Bonifati V. Quadri M, et al. Neurogenetics. 2015 Jan;16(1):55-64. doi: 10.1007/s10048-014-0425-x. Epub 2014 Oct 8. Neurogenetics. 2015. PMID: 25294124
The Wilms tumor gene, Wt1, is critical for mouse spermatogenesis via regulation of sertoli cell polarity and is associated with non-obstructive azoospermia in humans.
Wang XN, Li ZS, Ren Y, Jiang T, Wang YQ, Chen M, Zhang J, Hao JX, Wang YB, Sha RN, Huang Y, Liu X, Hu JC, Sun GQ, Li HG, Xiong CL, Xie J, Jiang ZM, Cai ZM, Wang J, Wang J, Huff V, Gui YT, Gao F. Wang XN, et al. Among authors: hu jc. PLoS Genet. 2013;9(8):e1003645. doi: 10.1371/journal.pgen.1003645. Epub 2013 Aug 1. PLoS Genet. 2013. PMID: 23935527 Free PMC article.
Excess of rare variants in genes that are key epigenetic regulators of spermatogenesis in the patients with non-obstructive azoospermia.
Li Z, Huang Y, Li H, Hu J, Liu X, Jiang T, Sun G, Tang A, Sun X, Qian W, Zeng Y, Xie J, Zhao W, Xu Y, He T, Dong C, Liu Q, Mou L, Lu J, Lin Z, Wu S, Gao S, Guo G, Feng Q, Li Y, Zhang X, Wang J, Yang H, Wang J, Xiong C, Cai Z, Gui Y. Li Z, et al. Sci Rep. 2015 Mar 5;5:8785. doi: 10.1038/srep08785. Sci Rep. 2015. PMID: 25739334 Free PMC article.
966 results