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Items: 1 to 20 of 710

1.

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.

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.

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.

4.

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.

5.

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.

6.

A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N.

Graefes Arch Clin Exp Ophthalmol. 2000 Jul;238(7):552-8.

PMID:
10955655
7.

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.

8.

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.

9.

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly.

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

Mol Vis. 2010 Apr 15;16:676-81.

10.

PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.

Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M.

Diabetes. 2002 Jan;51(1):224-30.

11.

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.

12.

A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.

Zhuang J, Chen X, Tan Z, Zhu Y, Zhao K, Yang J.

Sci Rep. 2014 May 2;4:4836. doi: 10.1038/srep04836.

13.

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
14.

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.

15.

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
16.

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.

17.

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.

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.
20.

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.

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