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Items: 1 to 20 of 164

1.

PAX6 analysis of two sporadic patients from southern China with classic aniridia.

Lin Y, Liu X, Yu S, Luo L, Liang X, Wang Z, Chen C, Zhu Y, Ye S, Yan H, Liu Y.

Mol Vis. 2012;18:2190-4. Epub 2012 Aug 7.

2.

PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia.

Lin Y, Liu X, Liang X, Li B, Jiang S, Ye S, Yang H, Lou B, Liu Y.

Mol Vis. 2011;17:3116-20. Epub 2011 Nov 26.

3.

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.

Mol Vis. 2012;18:465-70. Epub 2012 Feb 16.

4.

Mutation analysis of paired box 6 gene in inherited aniridia in northern China.

Chen P, Zang X, Sun D, Wang Y, Wang Y, Zhao X, Zhang M, Xie L.

Mol Vis. 2013 May 30;19:1169-77. Print 2013.

5.

A novel PAX6 deletion in a Chinese family with congenital aniridia.

Chen JH, Lin W, Sun G, Huang C, Huang Y, Chen H, Pang CP, Zhang M.

Mol Vis. 2012;18:989-95. Epub 2012 Apr 21.

6.

A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.

Cai F, Zhu J, Chen W, Ke T, Wang F, Tu X, Zhang Y, Jin R, Wu X.

Mol Vis. 2010 Jun 22;16:1141-5.

7.

Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia.

Luo F, Zhou L, Ma X, He Y, Zou L, Jie Y, Liu J, Pan Z.

Ophthalmic Res. 2012;47(1):27-31. doi: 10.1159/000327593. Epub 2011 Jun 21.

PMID:
21691140
8.

Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.

Dubey SK, Mahalaxmi N, Vijayalakshmi P, Sundaresan P.

Mol Vis. 2015 Jan 27;21:88-97. eCollection 2015.

9.

A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.

Cao X, Zhou XM, Gan R, Jiang LQ, Lu L, Wang Y, Fan N, Yin Y, Yan NH, Yu WH, Liu XY.

Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.

10.

Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.

Kang Y, Lin Y, Li X, Wu Q, Huang L, Li Q, Hu Q.

Mol Vis. 2012;18:1750-4. Epub 2012 Jun 27.

11.

Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.

Yan N, Zhao Y, Wang Y, Xie A, Huang H, Yu W, Liu X, Cai SP.

Mol Vis. 2011;17:2612-7. Epub 2011 Oct 5.

12.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

13.

Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.

Yuan H, Kang Y, Shao Z, Li Y, Yang G, Xu N.

Mol Vis. 2007 Aug 30;13:1555-61.

PMID:
17893655
14.
15.

A novel PAX6 gene mutation in a Chinese family with aniridia.

Song S, Liu Y, Guo S, Zhang L, Zhang X, Wang S, Lu A, Li L.

Mol Vis. 2005 May 6;11:335-7.

16.

Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype.

Zhang X, Zhang Q, Tong Y, Dai H, Zhao X, Bai F, Xu L, Li Y.

Mol Vis. 2011 Feb 19;17:548-57.

17.

[Identification of a novel PAX6 mutation in a family with congenital aniridia].

Li J, Zhao L, Cai XJ, Lu L, Li G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):579-81. doi: 10.3760/cma.j.issn.1003-9406.2013.05.015. Chinese.

PMID:
24078574
18.

Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.

Neethirajan G, Nallathambi J, Krishnadas SR, Vijayalakshmi P, Shashikanth S, Collinson JM, Sundaresan P.

BMC Ophthalmol. 2006 Jun 27;6:28.

19.

A novel PAX6 mutation in Chinese patients with severe congenital aniridia.

He Y, Pan Z, Luo F.

Curr Eye Res. 2012 Oct;37(10):879-83. doi: 10.3109/02713683.2012.688165. Epub 2012 May 23.

PMID:
22621390
20.

[A novel mutation of the PAX6 gene in a Chinese family with aniridia].

Kang Y, Yuan HP, Li X, Li QJ, Wu Q, Hu Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):376-80. doi: 10.3760/cma.j.issn.1003-9406.2010.04.004. Chinese.

PMID:
20677140

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