Wang YM - Search Results

1

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. Among authors: wang ym. Chin Med J (Engl). 2007 May 5;120(9):834-7. Chin Med J (Engl). 2007. PMID: 17531128 No abstract available.

2

Family-based association study showing that immunoglobulin A nephropathy is associated with the polymorphisms 2093C and 2180T in the 3' untranslated region of the Megsin gene.

Li YJ, Du Y, Li CX, Guo H, Leung JC, Lam MF, Yang N, Huang F, Chen Y, Fang JQ, Maxwell PH, Lai KN, Wang Y. Li YJ, et al. J Am Soc Nephrol. 2004 Jul;15(7):1739-43. doi: 10.1097/01.asn.0000130858.00688.46. J Am Soc Nephrol. 2004. PMID: 15213261

3

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

4

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. Nephrol Dial Transplant. 2006 Jun;21(6):1570-4. doi: 10.1093/ndt/gfk096. Epub 2006 Jan 23. Nephrol Dial Transplant. 2006. PMID: 16431886

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

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. 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.

7

Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.

Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y. Su P, et al. Arthritis Rheum. 2008 Jun;58(6):1701-6. doi: 10.1002/art.23491. Arthritis Rheum. 2008. PMID: 18512791 Free article.

8

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

Li XH, Chen SQ, Wang YM. Li XH, et al. Among authors: wang ym. 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.

9

Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese.

Hu S, Zhong Y, Hao Y, Luo M, Zhou Y, Guo H, Liao W, Wan D, Wei H, Gao Y, Shan J, Hu B, Hultén M, Wang Y. Hu S, et al. Clin Chem Lab Med. 2009;47(10):1239-45. doi: 10.1515/CCLM.2009.284. Clin Chem Lab Med. 2009. PMID: 19743957

10

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. Mol Vis. 2010 Feb 15;16:224-30. Mol Vis. 2010. PMID: 20161820 Free PMC article.

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