Xia K - Search Results

1

Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.

Shen L, Liu C, Gao M, Li H, Zhang Y, Tian Q, Ni H, Peng P, Zhao R, Hu Z, Gao Y, Xia K, Bo Q, Guo H. Shen L, et al. Among authors: xia k. J Dermatol. 2019 Aug;46(8):731-733. doi: 10.1111/1346-8138.14978. Epub 2019 Jun 26. J Dermatol. 2019. PMID: 31241787

2

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, Long Z, Dai H, Zi X, Jiang H. Tang B, et al. Among authors: xia k. Arch Neurol. 2004 Jan;61(1):49-55. doi: 10.1001/archneur.61.1.49. Arch Neurol. 2004. PMID: 14732620

3

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.

Tang BS, Luo W, Xia K, Xiao JF, Jiang H, Shen L, Tang JG, Zhao GH, Cai F, Pan Q, Dai HP, Yang QD, Xia JH, Evgrafov OV. Tang BS, et al. Among authors: xia k, xia jh. Hum Genet. 2004 May;114(6):527-33. doi: 10.1007/s00439-004-1102-1. Epub 2004 Mar 12. Hum Genet. 2004. PMID: 15021985

4

[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].

Hu ZM, Zheng D, Pan Q, Yang YF, Zhao TL, Liu XP, Wu LQ, Jiang DG, Xia K, Xia JH. Hu ZM, et al. Among authors: xia k, xia jh. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):97-100. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004. PMID: 15079787 Chinese.

5

A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J. Xia K, et al. Among authors: xia j. Mol Vis. 2004 May 20;10:361-5. Mol Vis. 2004. PMID: 15162096 Free article.

6

A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.

Tang B, Li H, Xia K, Jiang H, Pan Q, Shen L, Long Z, Zhao G, Cai F. Tang B, et al. Among authors: xia k. J Neurol Sci. 2004 Jun 15;221(1-2):31-4. doi: 10.1016/j.jns.2004.03.001. J Neurol Sci. 2004. PMID: 15178210

7

[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].

Zhang RX, Tang BS, Zi XH, Luo W, Xia K, Pan Q, Long ZG, Hu ZM, Li XB. Zhang RX, et al. Among authors: xia k. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):207-10. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004. PMID: 15192818 Chinese.

8

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.

Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP. Tang BS, et al. Among authors: xia k. Hum Genet. 2005 Feb;116(3):222-4. doi: 10.1007/s00439-004-1218-3. Epub 2004 Nov 23. Hum Genet. 2005. PMID: 15565283

9

[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.

10

[Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6].

Jiang H, Tang B, Xu B, Zhao GH, Shen L, Tang JG, Li QH, Xia K. Jiang H, et al. Among authors: xia k. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):1-4. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 15696468 Chinese.

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