| 中国学者近期发表的论文 |
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| 1. | A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
Author: Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG.
Journal: Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8. | | 2. | Exploring population admixture dynamics via empirical and simulated genome-wide distribution of ancestral chromosomal segments.
Author: Jin W, Wang S, Wang H, Jin L, Xu S.
Journal: Am J Hum Genet. 2012 Nov 2;91(5):849-62. doi: 10.1016/j.ajhg.2012.09.008. Epub 2012 Oct 25. | | 3. | Identification of IL18RAP/IL18R1 and IL12B as leprosy risk genes demonstrates shared pathogenesis between inflammation and infectious diseases.
Author: Liu H, Irwanto A, Tian H, Fu X, Yu Y, Yu G, Low H, Chu T, Li Y, Shi B, Chen M, Sun Y, Yuan C, Lu N, You J, Bao F, Li J, Liu J, Liu H, Liu D, Yu X, Zhang L, Yang Q, Wang N, Niu G, Ma S, Zhou Y, Wang C, Chen S, Zhang X, Liu J, Zhang F.
Journal: Am J Hum Genet. 2012 Nov 2;91(5):935-41. doi: 10.1016/j.ajhg.2012.09.010. Epub 2012 Oct 25. | | 4. | Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.
Author: Jin G, Ma H, Wu C, Dai J, Zhang R, Shi Y, Lu J, Miao X, Wang M, Zhou Y, Chen J, Li H, Pan S, Chu M, Lu F, Yu D, Jiang Y, Dong J, Hu L, Chen Y, Xu L, Shu Y, Pan S, Tan W, Zhou B, Lu D, Wu T, Zhang Z, Chen F, Wang X, Hu Z, Lin D, Shen H.
Journal: Am J Hum Genet. 2012 Nov 2;91(5):928-34. doi: 10.1016/j.ajhg.2012.09.009. Epub 2012 Oct 25. | | 5. | Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
Author: Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y.
Journal: Am J Hum Genet. 2012 Nov 2;91(5):906-11. doi: 10.1016/j.ajhg.2012.08.029. Epub 2012 Oct 11. | | 6. | A functional copy-number variation in MAPKAPK2 predicts risk and prognosis of lung cancer.
Author: Liu B, Yang L, Huang B, Cheng M, Wang H, Li Y, Huang D, Zheng J, Li Q, Zhang X, Ji W, Zhou Y, Lu J.
Journal: Am J Hum Genet. 2012 Aug 10;91(2):384-90. doi: 10.1016/j.ajhg.2012.07.003. | | 7. | A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.
Author: Kim JW, Hong KW, Go MJ, Kim SS, Tabara Y, Kita Y, Tanigawa T, Cho YS, Han BG, Oh B.
Journal: Am J Hum Genet. 2012 Jul 13;91(1):180-4. doi: 10.1016/j.ajhg.2012.05.019. Epub 2012 Jun 21. | | 8. | A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.
Author: Zhao H, Xu J, Zhang H, Sun J, Sun Y, Wang Z, Liu J, Ding Q, Lu S, Shi R, You L, Qin Y, Zhao X, Lin X, Li X, Feng J, Wang L, Trent JM, Xu C, Gao Y, Zhang B, Gao X, Hu J, Chen H, Li G, Zhao J, Zou S, Jiang H, Hao C, Zhao Y, Ma J, Zheng SL, Chen ZJ.
Journal: Am J Hum Genet. 2012 May 4;90(5):900-6. doi: 10.1016/j.ajhg.2012.04.001. Epub 2012 Apr 26. | | 9. | Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.
Author: Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y.
Journal: Am J Hum Genet. 2012 Mar 9;90(3):558-64. doi: 10.1016/j.ajhg.2012.02.006. | | 10. |
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