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Items: 1 to 20 of 189

1.
2.

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

Wawrocka A, Sikora A, Kuszel L, Krawczynski MR.

J Appl Genet. 2013 Aug;54(3):345-51. doi: 10.1007/s13353-013-0154-0. Epub 2013 Jun 13.

3.

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. Epub 2012 Feb 22.

PMID:
22361317
4.

PAX6 3' deletion in a family with aniridia.

Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowinska A, Krawczynski MR.

Ophthalmic Genet. 2012 Mar;33(1):44-8. doi: 10.3109/13816810.2011.615076. Epub 2011 Oct 10.

PMID:
21985185
5.

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.

6.

Mutation spectrum of PAX6 in Chinese patients with aniridia.

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

Mol Vis. 2011;17:2139-47. Epub 2011 Aug 11.

7.

A deletion 3' to the PAX6 gene in familial aniridia cases.

D'Elia AV, Pellizzari L, Fabbro D, Pianta A, Divizia MT, Rinaldi R, Grammatico B, Grammatico P, Arduino C, Damante G.

Mol Vis. 2007 Jul 23;13:1245-50.

PMID:
17679951
8.

Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.

Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, Li Y.

Eye (Lond). 2011 Dec;25(12):1581-9. doi: 10.1038/eye.2011.215. Epub 2011 Sep 9.

10.
11.

PAX6 gene intragenic deletions in Mexican patients with congenital aniridia.

Ramirez-Miranda A, Zenteno JC.

Mol Vis. 2006 Apr 7;12:318-23.

12.

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

Kang Y, Yuan HP, Li YY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Apr;25(2):172-5. Chinese.

PMID:
18393239
13.

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.

14.

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
15.

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.

16.

[Analysis of PAX6 gene in a Chinese family with congenital aniridia].

Li PC, Yao Q, Ren X, Zhang MC, Li H, Liu JY, Sheng SY, Wang Q, Liu MG.

Zhonghua Yan Ke Za Zhi. 2009 Oct;45(10):931-4. Chinese.

PMID:
20137456
17.

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.

18.

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA.

Am J Med Genet A. 2008 Mar 1;146A(5):558-69. doi: 10.1002/ajmg.a.32209.

PMID:
18241071
19.

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.

20.

[Genetics of congenital aniridia].

Neuhaus C, Betz C, Bergmann C, Bolz HJ.

Ophthalmologe. 2014 Dec;111(12):1157-63. doi: 10.1007/s00347-014-3059-3. German.

PMID:
25475187

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