Chen S - Search Results

1

Association of MEGSIN 2093C-2180T haplotype at the 3' untranslated region with disease severity and progression of IgA nephropathy.

Xia Y, Li Y, Du Y, Yang N, Li C, Leung JC, Lam MF, Huang W, Chen S, Maxwell PH, Lai KN, Wang Y. Xia Y, et al. Among authors: chen s. Nephrol Dial Transplant. 2006 Jun;21(6):1570-4. doi: 10.1093/ndt/gfk096. Epub 2006 Jan 23. Nephrol Dial Transplant. 2006. PMID: 16431886

2

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.

Chen S, Song C, Guo H, Xu P, Huang W, Zhou Y, Sun J, Li CX, Du Y, Li X, Liu Z, Geng D, Maxwell PH, Zhang C, Wang Y. Chen S, et al. Hum Mutat. 2005 Feb;25(2):135-41. doi: 10.1002/humu.20126. Hum Mutat. 2005. PMID: 15643603

3

[Recent advances of genetic research on paroxysmal kinesigenic dyskinesias].

Li XH, Chen SQ, Wang YM. Li XH, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Aug;25(4):410-3. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008. PMID: 18683138 Review. Chinese.

4

Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.

Zhong X, Chen S, Huang W, Yang J, Chen X, Zhou Y, Zhou Q, Wang Y. Zhong X, et al. Among authors: chen s, chen x. Mol Vis. 2010 Feb 15;16:224-30. Mol Vis. 2010. PMID: 20161820 Free PMC article.

5

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.

Chen S, Zhang Y, Wang Y, Li W, Huang S, Chu X, Wang L, Zhang M, Liu Z. Chen S, et al. Am J Ophthalmol. 2007 Jan;143(1):186-188. doi: 10.1016/j.ajo.2006.06.049. Am J Ophthalmol. 2007. PMID: 17188070

6

R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.

Yuan WL, Huang CY, Wang JF, Xie SL, Nie RQ, Liu YM, Liu PM, Zhou SX, Chen SQ, Huang WJ. Yuan WL, et al. Chin Med J (Engl). 2009 Dec 5;122(23):2840-5. Chin Med J (Engl). 2009. PMID: 20092787

7

A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.

Li XH, Song C, Chen SQ, Zhou Y, Guo H, Zhou CL, Yang ZY, Liang YX, Wang YM. Li XH, et al. Chin Med J (Engl). 2007 May 5;120(9):834-7. Chin Med J (Engl). 2007. PMID: 17531128 No abstract available.

8

A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.

Deng W, Chen S, Lu C, Zhou X, Hu B, Chen M, Lai W, Wang Y. Deng W, et al. Among authors: chen m, chen s. J Dermatol Sci. 2008 Feb;49(2):166-9. doi: 10.1016/j.jdermsci.2007.08.007. Epub 2007 Sep 27. J Dermatol Sci. 2008. PMID: 17900868 No abstract available.

9

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

Zhang XY, Jiang WY, Chen LM, Chen SQ. Zhang XY, et al. Int J Ophthalmol. 2013 Dec 18;6(6):739-43. doi: 10.3980/j.issn.2222-3959.2013.06.01. eCollection 2013. Int J Ophthalmol. 2013. PMID: 24392318 Free PMC article.

10

[Study on gene mutations of alpha-thalassemia in the South of China].

Duan S, Li HY, Chen Z, Chen SQ, Bi XJ, Chen LM, Du CS. Duan S, et al. Among authors: chen z, chen lm, chen sq. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2003 Feb;11(1):54-60. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2003. PMID: 12667291 Chinese.

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