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Items: 1 to 20 of 205

1.

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV.

Mol Vis. 2010 Aug 22;16:1705-11.

2.

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.

3.

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.

4.

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.

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Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.

Lim HT, Seo EJ, Kim GH, Ahn H, Lee HJ, Shin KH, Lee JK, Yoo HW.

Ophthalmology. 2012 Jun;119(6):1258-64. doi: 10.1016/j.ophtha.2011.12.010.

PMID:
22361317
8.

[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract].

Lin Y, Li J, Yang Y, Yang JY, Zhang B, Tang X, Liu XQ, Lu F, Yang ZL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):542-5. doi: 10.3760/cma.j.issn.1003-9406.2009.05.015. Chinese.

PMID:
19806578
9.

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.

10.

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

Bandah D, Rosenmann A, Blumenfeld A, Averbukh E, Banin E, Sharon D.

Mol Vis. 2008 Jan 28;14:142-5.

11.

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.

Villarroel CE, Villanueva-Mendoza C, Orozco L, Alcántara-Ortigoza MA, Jiménez DF, Ordaz JC, González-del Angel A.

Mol Vis. 2008 Sep 8;14:1650-8.

12.

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.

PMID:
22621390
13.

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.

14.

PAX6 aniridia and interhemispheric brain anomalies.

Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF.

Mol Vis. 2009 Oct 17;15:2074-83.

15.

A rare PAX6 mutation in a Chinese family with congenital aniridia.

He F, Liu DL, Chen MP, Liu L, Lu L, Ouyang M, Yang J, Gan R, Liu XY.

Genet Mol Res. 2015 Oct 27;14(4):13328-36. doi: 10.4238/2015.October.26.29.

16.

A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia.

Chang MS, Han JC, Lee J, Kwun Y, Huh R, Ki CS, Kee C, Cho SY, Jin DK.

Ann Clin Lab Sci. 2015 Winter;45(1):90-3.

PMID:
25696017
17.

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.

18.

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.

19.

Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.

Wang P, Guo X, Jia X, Li S, Xiao X, Zhang Q.

Mol Vis. 2006 Jun 7;12:644-8.

20.

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
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