Li JY - Search Results

1

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.

Zhai Y, Wang W, Zhu YN, Li JY, Yu YH, Lai KR, Yao K. Zhai Y, et al. Among authors: li jy. Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015. Int J Ophthalmol. 2015. PMID: 26558191 Free PMC article.

2

A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

Wang W, Jiang J, Zhu Y, Li J, Jin C, Shentu X, Yao K. Wang W, et al. Mol Vis. 2010 Mar 25;16:534-9. Mol Vis. 2010. PMID: 20361015 Free PMC article.

3

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.

Zhu Y, Shentu X, Wang W, Li J, Jin C, Yao K. Zhu Y, et al. Mol Vis. 2010 Nov 9;16:2347-53. Mol Vis. 2010. PMID: 21139983 Free PMC article.

4

Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.

Yao K, Li J, Jin C, Wang W, Zhu Y, Shentu X, Wang Q. Yao K, et al. Mol Vis. 2011 Jan 13;17:144-52. Mol Vis. 2011. PMID: 21245961 Free PMC article.

5

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.

Jin C, Wang Q, Li J, Zhu Y, Shentu X, Yao K. Jin C, et al. Mol Vis. 2012;18:465-70. Epub 2012 Feb 16. Mol Vis. 2012. PMID: 22393272 Free PMC article.

6

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.

Yu Y, Li J, Xu J, Wang Q, Yu Y, Yao K. Yu Y, et al. Mol Vis. 2012;18:2213-20. Epub 2012 Aug 8. Mol Vis. 2012. PMID: 22919269 Free PMC article.

7

Misdiagnosis induced intraocular lens dislocation in anterior megalophthalmos.

Wang QW, Xu W, Zhu YN, Li JY, Zhang L, Yao K. Wang QW, et al. Among authors: li jy. Chin Med J (Engl). 2012 Sep;125(17):3180-2. Chin Med J (Engl). 2012. PMID: 22932204

8

A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.

Li J, Wang Q, Fu Q, Zhu Y, Zhai Y, Yu Y, Zhang K, Yao K. Li J, et al. Mol Vis. 2013 Apr 5;19:767-74. Print 2013. Mol Vis. 2013. PMID: 23592913 Free PMC article.

9

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.

Yin HF, Fang XY, Jin CF, Yin JF, Li JY, Zhao SJ, Miao Q, Song FW. Yin HF, et al. Among authors: li jy. J Zhejiang Univ Sci B. 2014 Jan;15(1):43-50. doi: 10.1631/jzus.B1300053. J Zhejiang Univ Sci B. 2014. PMID: 24390743 Free PMC article.

10

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.

Yu Y, Yu Y, Chen P, Li J, Zhu Y, Zhai Y, Yao K. Yu Y, et al. BMC Med Genet. 2014 Jan 9;15:6. doi: 10.1186/1471-2350-15-6. BMC Med Genet. 2014. PMID: 24405844 Free PMC article.

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