1、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#. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet,2012;91(6):1088-1094
2、郭文婷, 顾鸣敏#. 无义介导的mRNA降解机制及其在单基因遗传病中的作用. 遗传,2012;34(8):935-942
3、李大伟, 顾鸣敏#. 精神分裂症主要易感基因的研究进展. 国际遗传学杂志,2012;35(5):283-289
4、Yuan Li, Haiying Yi, Yixin Yao, Xiaodong Liao, Yiqun Xie, Jie Yang, Zheng Yan, Long Wang, Shunyuan Lu, Ying Kuang, Mingmin Gu, Jian Fei, Zhugang Wang, Lei Huang. The Cytoplasmic Domain of MUC1 Induces Hyperplasia in the Mammary Gland and Correlates with Nuclear Accumulation of b-Catenin. PLoS ONE,2011;6(4):1-11
5、徐汪洋, 丁晓毅, 徐建强, 张海国, 杨江民, 袁文涛, 黄 薇, 王铸钢, 吴晓林, 顾鸣敏#. 多发性骨性连接综合征大家系的临床观察及遗传学研究. 诊断学理论与实践,2011;10(2):117-121
6、徐汪洋,孙莲花,顾鸣敏#. 腓骨肌萎缩症的遗传特征及致病机制的研究进展. 国际遗传学杂志,2010;33(2): 56-59
7、顾鸣敏#. 人类遗传性疾病基因诊断的回顾与展望. 诊断学理论与实践,2010;9(5):420-423
8、孙莲花, 陈燕, 麻孙恺, 迟俊, 顾鸣敏#, 王铸钢#. TAFA2基因剔除小鼠模型的建立. 实验动物与比较医学,2010;30(5):322-328.
9、Liu XS, Zhao XD, Wang XX, Yao YX, Zhang LL, Shu RZ, Ren WH, Huang Y, Huang L, Gu MM*, Kuang Y, Wang L, Lu SY, Chi J, Fen JS, Wang YF, Fei J, Dai W, Wang ZG.. Germinal cell aplasia in Kif18a mutant male mice due to impaired chromosome congression and dysregulated BubR1 and CENP-E. Genes & Cancer,2010;1(1): 26-39
10、Wu XL, Gu MM*, Huang L, Liu XS, Zhang HX, Ding XY, Xu JQ, Cui B, Wang L, Lu SY, Chen XY, Zhang HG, Huang W, Yuan WT, Yang JM, Gu Q, Fei J, Chen Z, Yuan ZM, Wang ZG.. Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. Am J Hum Genet,2009; 85(7):53-63
11、陈晓怡,吴晓林,顾鸣敏#,陆顺元,王铸钢. FGF9转基因小鼠的功能及组织表达谱的研究. 诊断学理论与实践,2009;85(5): 126-131
12、Liu XS, Li XH, Wang Y, Shu RZ, Wang L, Lu SY, Kong H, Jin YE, Zhang LJ, Fei J, Chen SJ, Chen Z, Gu MM, Lu ZY, Wang ZG. Disruption of palladin leads to defects in definitive erythropoiesis by interfering erythroblastic island formation in mouse fetal liver. BLOOD,2007;110(3): 870-6
13、Liu XS, Luo HJ, Yang H, Wang L, Kong H, Jin YE, Wang F, Gu MM, Lu ZY, Wang ZG. Palladin Regulates Cell and Extracellular Matrix Interaction through Maintaining Normal Actin Cytoskeleton Architecture and Stabilizing Beta1-integrin. Journal of Cellular Biochemistry,2007;100(5):1288-300
14、顾鸣敏*, 王铸钢. 模式生物与人类疾病. 科学,2006;58(5): 6-9
15、顾鸣敏*, 王铸钢. 多发性骨性连接综合征及其相关疾病的遗传学研究进展. 国外医学遗传学分册,2005;28(4): 32-34
16、Luo HJ, Liu XS, Wang F, Huang QH, Shen SH, Wang L, Xu GJ, Sun X, Kong H, Gu MM, Chen SJ, Chen Z, Wang ZG. Disruption of palladin results in neural tube closure defects in mice. Molecular and Cellular Neuroscience,2005;29: 507-515
17、Gu MM*, Yuan WT, Yang JQ, Huang W, Wang ZG, Fan LA. The relationship between halpotypes of multilocus markers and ankylosing spondylitis. Chin J Med Genet,2004;21(4): 312-315
18、Gu MM*, Yuan WT, Yang JQ, Huang W, Wang ZG, Fan LA. A genomewide scan for the susceptibility gene loci to ankylosing spondylitis in Chinese han population. Acta Genetica Sinica,2004;31(3): 217-220
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