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科学研究

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科研项目国家重大科技计划专栏科研队伍发表论文研究成果专著专利
 

2008年发表论文

 

1.     Wu LQ, Long ZG, Liang DS, Harada N, Pan Q, Yoshiura K, Xia K, Dai H, Niikawa N, Xia JH. (2008) Pre- and postnatal overgrowth in a patient with proximal 4p deletion.Am J Med Genet A.146:791-794.


2.     Wen L, Liang DS, Wu LQ, Cai F Pan Q, Long ZG, Dai HP, Xia K, Xia JH. (2008) Efficient protein expression from the endogenous RNA polymerase I promoter using a human ribosomal DNA targeting vector.Biochem Biophys Res Commun.367: 846-851.


3    . Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS. (2008) A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.Chinese Med J-peking (Engl).121: 430-434.


4.     Li H, Li N, Shen L, Jiang H, Yang Q, Song Y, Guo J, Xia K, Pan Q, Tang B. (2008) A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.Epilepsy Res.79: 1-5.


5.     Liu S, Bromley BK, Xia K, Mittelholtz J, Wang R, Song W. (2008)TMP21 degradation is mediated by the ubiquitin-proteasome pathway.Eur J Neurosci. 28: 1980-1988.


6.     Li CX, Pan Q, Guo YG, Li Y, Gao HF, Zhang D, Hu H, Xing WL, Mitchelson K, Xia K, Dai P, Cheng J. (2008) Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.Hum Mutat.29: 306-314.


7.     Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS. (2008) Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.J Neurol Sci.275: 92-99.


8.     Qiong P, Hu Z, Feng Y, Pan Q, Xia J, Xia K. (2008) Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus.J Laryngol Otol.122:1029-1036.


9.     Wang JL, Jiang H, Zhang S, Xu Q, Zhou YF, Liao SS, Shen L, Yan XX, Zhu HX, Pan Q, Xia K, Tang BS. (2008) Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han.J Genet.87: 283-286.


10.     Guo JF, Xiao B, Liao B, Zhang XW, Nie LL, Zhang YH, Shen L, Jiang H, Xia K, Pan Q, Yan XX, Tang BS. (2008) Mutation analysis of Parkin PINK1 DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.Movment Disord.23: 2074-2079.


11.     Wang D, Tang B, Zhao G, Pan Q, Xia K, Bodmer R, Zhang Z. (2008) Dispensable role of Drosophila ortholog of LRRK2 kinase activity in survival of dopaminergic neurons.Mol Neurodegener.3:3.


12.     Zeng Q, An SM, Pan Q, Xia K, Xia JH, Zhang ZH, Sun YE, Fan GP. (2008) Efficient Derivation of Mesenchymal Stem Cells and Neural Precursor Cells From Human Embryonic Stem Cells Through Teratoma Formation.Prog Biochem Biophys.35: 1417-1424.

     
     
     
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