BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

216 related articles for article (PubMed ID: 18243151)

  • 1. Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
    Traboulsi EI; Ellison J; Sears J; Maumenee IH; Avallone J; Mohney BG
    Am J Ophthalmol; 2008 Apr; 145(4):760-4. PubMed ID: 18243151
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.
    Lim HT; Seo EJ; Kim GH; Ahn H; Lee HJ; Shin KH; Lee JK; Yoo HW
    Ophthalmology; 2012 Jun; 119(6):1258-64. PubMed ID: 22361317
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment.
    Beby F; Dieterich K; Calvas P
    Eye (Lond); 2011 May; 25(5):657-8. PubMed ID: 21274015
    [No Abstract]   [Full Text] [Related]  

  • 7. Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients.
    Atchaneeyasakul LO; Trinavarat A; Dulayajinda D; Kumpornsin K; Thongnoppakhun W; Yenchitsomanus PT; Limwongse C
    Ophthalmic Genet; 2006 Mar; 27(1):21-7. PubMed ID: 16543198
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.
    Khan AO; Aldahmesh MA
    Ophthalmic Genet; 2008 Sep; 29(3):145-8. PubMed ID: 18766996
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PAX6 aniridia and interhemispheric brain anomalies.
    Abouzeid H; Youssef MA; ElShakankiri N; Hauser P; Munier FL; Schorderet DF
    Mol Vis; 2009 Oct; 15():2074-83. PubMed ID: 19862335
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. [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]  

  • 12. 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; 14():1650-8. PubMed ID: 18776953
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation.
    Caglayan AO; Robinson D
    Genet Couns; 2011; 22(2):155-9. PubMed ID: 21848007
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A review of the clinical and genetic aspects of aniridia.
    Lee HJ; Colby KA
    Semin Ophthalmol; 2013; 28(5-6):306-12. PubMed ID: 24138039
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital aniridia variant: minimally abnormal irides with severe limbal stem cell deficiency.
    Skeens HM; Brooks BP; Holland EJ
    Ophthalmology; 2011 Jul; 118(7):1260-4. PubMed ID: 21376398
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A case of aniridia with unilateral Peters anomaly.
    Sawada M; Sato M; Hikoya A; Wang C; Minoshima S; Azuma N; Hotta Y
    J AAPOS; 2011 Feb; 15(1):104-6. PubMed ID: 21397818
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.