181 related articles for article (PubMed ID: 25696017)
1. 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; 45(1):90-3. PubMed ID: 25696017
[TBL] [Abstract][Full Text] [Related]
2. 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; 16():1141-5. PubMed ID: 20664694
[TBL] [Abstract][Full Text] [Related]
3. 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; 19():1169-77. PubMed ID: 23734086
[TBL] [Abstract][Full Text] [Related]
4. 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; 16():1705-11. PubMed ID: 20806047
[TBL] [Abstract][Full Text] [Related]
5. 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; 13():511-23. PubMed ID: 17417613
[TBL] [Abstract][Full Text] [Related]
6. 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; 14(4):13328-36. PubMed ID: 26535646
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 22550392
[TBL] [Abstract][Full Text] [Related]
8. A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.
Weisschuh N; Wissinger B; Gramer E
Mol Vis; 2012; 18():751-7. PubMed ID: 22509105
[TBL] [Abstract][Full Text] [Related]
9. 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; 14():142-5. PubMed ID: 18334930
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22393272
[TBL] [Abstract][Full Text] [Related]
11. 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; 21():88-97. PubMed ID: 25678763
[TBL] [Abstract][Full Text] [Related]
12. Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.
Park SH; Kim MS; Chae H; Kim Y; Kim M
Mol Vis; 2012; 18():488-94. PubMed ID: 22393275
[TBL] [Abstract][Full Text] [Related]
13. 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; 4():4836. PubMed ID: 24787241
[TBL] [Abstract][Full Text] [Related]
14. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.
Gregory-Evans K; Cheong-Leen R; George SM; Xie J; Moosajee M; Colapinto P; Gregory-Evans CY
Can J Ophthalmol; 2011 Aug; 46(4):337-44. PubMed ID: 21816254
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22621390
[TBL] [Abstract][Full Text] [Related]
16. A novel PAX6 deletion in a Chinese family with congenital aniridia.
Liu Q; Wan W; Liu Y; Liu Y; Hu Z; Guo H; Xia K; Jin X
Gene; 2015 May; 563(1):41-4. PubMed ID: 25746674
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 21985185
[TBL] [Abstract][Full Text] [Related]
18. Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.
Fernandes-Lima ZS; Paixão-Côrtes VR; Andrade AK; Fernandes AS; Coronado BN; Monte Filho HP; Santos MJ; Omena Filho RL; Biondi FC; Ruiz-Linares A; Ramallo V; Hünemeier T; Schuler-Faccini L; Monlleó IL
Clin Genet; 2015; 87(1):68-73. PubMed ID: 24266705
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 21904390
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 23761016
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]