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Items: 1 to 20 of 152

1.

PAX6 mutations identified in 4 of 35 families with microcornea.

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

Invest Ophthalmol Vis Sci. 2012 Sep 19;53(10):6338-42.

PMID:
22893676
2.

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.

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.

5.

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.

6.

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
7.

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.

8.

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Hingorani M, Williamson KA, Moore AT, van Heyningen V.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2581-90. doi: 10.1167/iovs.08-2827. Epub 2009 Feb 14.

PMID:
19218613
9.

PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

Peter NM, Leyland M, Mudhar HS, Lowndes J, Owen KR, Stewart H.

Clin Exp Ophthalmol. 2013 Dec;41(9):835-41. doi: 10.1111/ceo.12109. Epub 2013 May 3.

PMID:
23566044
10.

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.

11.

Eye anomalies and neurological manifestations in patients with PAX6 mutations.

Chien YH, Huang HP, Hwu WL, Chien YH, Chang TC, Lee NC.

Mol Vis. 2009 Oct 22;15:2139-45.

12.

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO, Aldahmesh MA, Al-Abdi L, Mohamed JY, Hashem M, Al-Ghamdi I, Alkuraya FS.

Ophthalmic Genet. 2011 Sep;32(3):138-42. doi: 10.3109/13816810.2010.544365. Epub 2011 Feb 9.

PMID:
21306220
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.

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.

15.

Familial peripheral keratopathy without PAX6 mutation.

Smith WM, Lange JM, Sturm AC, Tanner SM, Mauger TF.

Cornea. 2012 Feb;31(2):130-3. doi: 10.1097/ICO.0b013e3182222779.

PMID:
22146551
16.

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.

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.

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.

19.

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.

20.

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.

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