BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

254 related articles for article (PubMed ID: 16543198)

  • 1. 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]  

  • 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. 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. 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]  

  • 5. 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]  

  • 6. PAX6 gene variations associated with aniridia in south India.
    Neethirajan G; Krishnadas SR; Vijayalakshmi P; Shashikant S; Sundaresan P
    BMC Med Genet; 2004 Apr; 5():9. PubMed ID: 15086958
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Study of genetic mutation locus in a family with congenital aniridia].
    Cong RC; Song SJ; Liu YZ
    Zhonghua Yan Ke Za Zhi; 2006 Dec; 42(12):1113-7. PubMed ID: 17415970
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel PAX6 gene mutation in an Indian aniridia patient.
    Neethirajan G; Hanson IM; Krishnadas SR; Vijayalakshmi P; Anupkumar K; Sundaresan P
    Mol Vis; 2003 May; 9():205-9. PubMed ID: 12789139
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PAX6 mutations: genotype-phenotype correlations.
    Tzoulaki I; White IM; Hanson IM
    BMC Genet; 2005 May; 6():27. PubMed ID: 15918896
    [TBL] [Abstract][Full Text] [Related]  

  • 10. PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India.
    Dharmaraj N; Reddy A; Kiran V; Mandal A; Panicker S; Chakrabarti S
    Ophthalmic Genet; 2003 Sep; 24(3):161-5. PubMed ID: 12868034
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.
    Kondo-Saitoh A; Matsumoto N; Sasaki T; Egashira M; Saitoh A; Yamada K; Niikawa N; Amemiya T
    Eur J Ophthalmol; 2000; 10(2):167-72. PubMed ID: 10887930
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Three novel PAX6 mutations in patients with aniridia.
    Zumkeller W; Orth U; Gal A
    Mol Pathol; 2003 Jun; 56(3):180-3. PubMed ID: 12782766
    [TBL] [Abstract][Full Text] [Related]  

  • 14. PAX6 gene intragenic deletions in Mexican patients with congenital aniridia.
    Ramirez-Miranda A; Zenteno JC
    Mol Vis; 2006 Apr; 12():318-23. PubMed ID: 16617299
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A deletion 3' to the PAX6 gene in familial aniridia cases.
    D'Elia AV; Pellizzari L; Fabbro D; Pianta A; Divizia MT; Rinaldi R; Grammatico B; Grammatico P; Arduino C; Damante G
    Mol Vis; 2007 Jul; 13():1245-50. PubMed ID: 17679951
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Missense mutations in the PAX6 gene in aniridia.
    Azuma N; Hotta Y; Tanaka H; Yamada M
    Invest Ophthalmol Vis Sci; 1998 Dec; 39(13):2524-8. PubMed ID: 9856761
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.