Xia K - Search Results

1

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Tan S, Zhang Q, Zhan R, Luo S, Han Y, Yu B, Muss C, Pingault V, Marlin S, Delahaye A, Peters S, Perne C, Kreiß M, Spataro N, Trujillo-Quintero JP, Racine C, Tran-Mau-Them F, Phornphutkul C, Besterman AD, Martinez J, Wang X, Tian X, Srivastava S, Urion DK, Madden JA, Saif HA, Morrow MM, Begtrup A, Li X, Jurgensmeyer S, Leahy P, Zhou S, Li F, Hu Z, Tan J, Xia K, Guo H. Tan S, et al. Among authors: xia k. Mol Psychiatry. 2024 Oct 29. doi: 10.1038/s41380-024-02806-z. Online ahead of print. Mol Psychiatry. 2024. PMID: 39472663

2

[Mutation screening in selected exons of myosin 7a gene in prelingual non-syndromic hearing impairment patients].

Hu P, Xie DH, Xiao ZA, Wu WJ, Ge SL, Hu ZM, Xia K. Hu P, et al. Among authors: xia k. Zhonghua Er Bi Yan Hou Ke Za Zhi. 2004 Sep;39(9):538-42. Zhonghua Er Bi Yan Hou Ke Za Zhi. 2004. PMID: 15606003 Chinese.

3

[ATM gene mutations in Chinese patients with ataxia telangiectasia].

Jiang H, Tang B, Hu Z, Xia K, Xu B, Tang J, Shen L. Jiang H, et al. Among authors: xia k. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Apr;22(2):121-4. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 15793768 Chinese.

4

[Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia].

Jiang H, Tang BS, Hu ZM, Xia K, Xu B, Tang JG. Jiang H, et al. Among authors: xia k. Zhonghua Yi Xue Za Zhi. 2005 Apr 27;85(16):1117-20. Zhonghua Yi Xue Za Zhi. 2005. PMID: 16029571 Chinese.

5

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

Tang B, Xiong H, Sun P, Zhang Y, Wang D, Hu Z, Zhu Z, Ma H, Pan Q, Xia JH, Xia K, Zhang Z. Tang B, et al. Among authors: xia jh, xia k. Hum Mol Genet. 2006 Jun 1;15(11):1816-25. doi: 10.1093/hmg/ddl104. Epub 2006 Apr 21. Hum Mol Genet. 2006. PMID: 16632486

6

Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia.

Tang J, Chen X, Xu X, Wu R, Zhao J, Hu Z, Xia K. Tang J, et al. Among authors: xia k. Neurosci Lett. 2006 Nov 27;409(1):80-2. doi: 10.1016/j.neulet.2006.09.022. Epub 2006 Oct 2. Neurosci Lett. 2006. PMID: 17011703

7

[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].

Li W, Hu ZM, Xie ZG, He HB, Pan Q, Xia K, Xia JH. Li W, et al. Among authors: xia k, xia jh. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Aug;32(4):546-50. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007. PMID: 17767039 Chinese.

8

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu Z, Xu S, Li Q, Song F, Tian J, Luo W, Ding M, Yin J, Xia K, Xia J. Zhang B, et al. Among authors: xia j, xia k. Mol Vis. 2007 Sep 13;13:1674-9. Mol Vis. 2007. PMID: 17893669

9

Screening of LRRK2 interactants by yeast 2-hybrid analysis.

Zheng XY, Yang M, Tan JQ, Pan Q, Long ZG, Dai HP, Xia K, Xia JH, Zhang ZH. Zheng XY, et al. Among authors: xia k, xia jh. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Oct;33(10):883-91. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008. PMID: 19001729

10

[Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants].

Li JZ, Hu YQ, Wang SH, Cheng HS, Pan Q, Xia K, Hu ZM, Feng Y. Li JZ, et al. Among authors: xia k. Yi Chuan. 2009 Jul;31(7):705-12. doi: 10.3724/sp.j.1005.2009.00705. Yi Chuan. 2009. PMID: 19586875 Chinese.

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