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Items: 10

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.

Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.

Shimo N, Yasuda T, Kitamura T, Matsushita K, Osawa S, Yamamoto Y, Kozawa J, Otsuki M, Funahashi T, Imagawa A, Kaneto H, Nishida K, Shimomura I.

Intern Med. 2014;53(1):39-42. Review.

3.

Pax6 3' deletion results in aniridia, autism and mental retardation.

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH.

Hum Genet. 2008 May;123(4):371-8. doi: 10.1007/s00439-008-0484-x. Epub 2008 Mar 6. Review.

4.

Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

Kondo-Saitoh A, Matsumoto N, Sasaki T, Egashira M, Saitoh A, Yamada K, Niikawa N, Amemiya T.

Eur J Ophthalmol. 2000 Apr-Jun;10(2):167-72. Review.

PMID:
10887930
5.

A review of the clinical and genetic aspects of aniridia.

Lee HJ, Colby KA.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):306-12. doi: 10.3109/08820538.2013.825293. Review.

PMID:
24138039
6.

Congenital iris ectropion as an indicator of variant aniridia.

Willcock C, Grigg J, Wilson M, Tam P, Billson F, Jamieson R.

Br J Ophthalmol. 2006 May;90(5):658-569. Review. No abstract available.

7.

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.

Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA.

Am J Hum Genet. 2013 Dec 5;93(6):1126-34. doi: 10.1016/j.ajhg.2013.10.028. Epub 2013 Nov 27. Review.

8.

Aniridia.

Hingorani M, Hanson I, van Heyningen V.

Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13. Review.

9.

Aetiology of infantile nystagmus.

Gottlob I, Proudlock FA.

Curr Opin Neurol. 2014 Feb;27(1):83-91. doi: 10.1097/WCO.0000000000000058. Review.

PMID:
24346039
10.

PAX6 gene associated with high myopia: a meta-analysis.

Tang SM, Rong SS, Young AL, Tam PO, Pang CP, Chen LJ.

Optom Vis Sci. 2014 Apr;91(4):419-29. doi: 10.1097/OPX.0000000000000224. Review.

PMID:
24637479

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