BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 18334930)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Analysis of PAX6 gene in a Chinese aniridia family.
    Zhu HY; Wu LQ; Pan Q; Liang DS; Long ZG; Dai HP; Xia K; Xia JH
    Chin Med J (Engl); 2006 Aug; 119(16):1400-2. PubMed ID: 16934188
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. 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. PubMed ID: 21691140
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial peripheral keratopathy without PAX6 mutation.
    Smith WM; Lange JM; Sturm AC; Tanner SM; Mauger TF
    Cornea; 2012 Feb; 31(2):130-3. PubMed ID: 22146551
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 22919266
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia.
    Lin Y; Liu X; Liang X; Li B; Jiang S; Ye S; Yang H; Lou B; Liu Y
    Mol Vis; 2011; 17():3116-20. PubMed ID: 22171157
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 13(4):8679-85. PubMed ID: 25366758
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 6():28. PubMed ID: 16803629
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia].
    Chen J; Zhu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug; 33(4):523-5. PubMed ID: 27455013
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel PAX6 gene mutation in a Chinese family with aniridia.
    Song S; Liu Y; Guo S; Zhang L; Zhang X; Wang S; Lu A; Li L
    Mol Vis; 2005 May; 11():335-7. PubMed ID: 15889018
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.