Ma X - Search Results

1

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

Li F, Wang S, Gao C, Liu S, Zhao B, Zhang M, Huang S, Zhu S, Ma X. Li F, et al. Among authors: ma x. Mol Vis. 2008 Mar 4;14:378-86. Mol Vis. 2008. PMID: 18334953 Free PMC article.

2

A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.

Gu F, Li R, Ma XX, Shi LS, Huang SZ, Ma X. Gu F, et al. Among authors: ma xx, ma x. Mol Vis. 2006 Jan 10;12:26-31. Mol Vis. 2006. PMID: 16446699 Free article.

3

Erectile dysfunction in Fragile X patients.

Gu F, Zhang HY, Hu SY, Huang SZ, Ma X, Zhang YQ. Gu F, et al. Among authors: ma x. Asian J Androl. 2006 Jul;8(4):483-7. doi: 10.1111/j.1745-7262.2006.00156.x. Asian J Androl. 2006. PMID: 16763726 Free article.

4

A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

Liu W, Gu F, Ji J, Lu D, Li X, Ma X. Liu W, et al. Among authors: ma x. Mol Vis. 2007 Mar 9;13:360-5. Mol Vis. 2007. PMID: 17392686 Free PMC article.

5

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract.

Wang J, Ma X, Gu F, Liu NP, Hao XL, Wang KJ, Wang NL, Zhu SQ. Wang J, et al. Among authors: ma x. Chin Med J (Engl). 2007 May 5;120(9):820-4. Chin Med J (Engl). 2007. PMID: 17531125

6

A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.

Gu F, Zhai H, Li D, Zhao L, Li C, Huang S, Ma X. Gu F, et al. Among authors: ma x. Mol Vis. 2007 Sep 11;13:1651-6. Mol Vis. 2007. PMID: 17893667

7

[EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses].

Zhang M, Liu SG, Li FF, Zhou WH, Jin XH, Ma X. Zhang M, et al. Among authors: ma x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):646-51. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007. PMID: 18067075 Chinese.

8

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, Ma X. He X, et al. Among authors: ma x. Mol Vis. 2008 Jan 11;14:56-60. Mol Vis. 2008. PMID: 18246032 Free PMC article.

9

A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.

Liu SG, Li FF, Huang SZ, Chen Y, Wang J, Lu DG, Zhang M, Ma X. Liu SG, et al. Among authors: ma x. Genet Test. 2007 Winter;11(4):445-9. doi: 10.1089/gte.2007.0035. Genet Test. 2007. PMID: 18294062

10

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.

Gu F, Luo W, Li X, Wang Z, Lu S, Zhang M, Zhao B, Zhu S, Feng S, Yan YB, Huang S, Ma X. Gu F, et al. Among authors: ma x. Hum Mutat. 2008 May;29(5):769. doi: 10.1002/humu.20724. Hum Mutat. 2008. PMID: 18407550

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