BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 24787241)

  • 1. 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]  

  • 2. 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]  

  • 3. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.
    Cheng F; Song W; Kang Y; Yu S; Yuan H
    Mol Vis; 2011 Feb; 17():448-55. PubMed ID: 21321669
    [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. 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]  

  • 6. A novel duplication in the PAX6 gene in a North Indian family with aniridia.
    Goswami S; Gupta V; Srivastava A; Sihota R; Malik MA; Kaur J
    Int Ophthalmol; 2014 Dec; 34(6):1183-8. PubMed ID: 25189681
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype.
    Zhang X; Zhang Q; Tong Y; Dai H; Zhao X; Bai F; Xu L; Li Y
    Mol Vis; 2011 Feb; 17():548-57. PubMed ID: 21364908
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
    Yahalom C; Sharon D; Dalia E; Simhon SB; Shemesh E; Blumenfeld A
    Ophthalmic Genet; 2015 Jun; 36(2):175-9. PubMed ID: 25687215
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. [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]  

  • 14. [A novel mutation of the PAX6 gene in a Chinese family with aniridia].
    Kang Y; Yuan HP; Li X; Li QJ; Wu Q; Hu Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Aug; 27(4):376-80. PubMed ID: 20677140
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 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. 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]  

  • 19. 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]  

  • 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. PubMed ID: 22550392
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.