These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 7666404)

  • 1. A new PAX6 mutation in familial aniridia.
    Hanson I; Brown A; van Heyningen V
    J Med Genet; 1995 Jun; 32(6):488-9. PubMed ID: 7666404
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the PAX6 gene in patients with hereditary aniridia.
    Davis A; Cowell JK
    Hum Mol Genet; 1993 Dec; 2(12):2093-7. PubMed ID: 8111379
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.
    Martha A; Ferrell RE; Mintz-Hittner H; Lyons LA; Saunders GF
    Am J Hum Genet; 1994 May; 54(5):801-11. PubMed ID: 7909985
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia.
    Baum L; Pang CP; Fan DS; Poon PM; Leung YF; Chua JK; Lam DS
    Hum Mutat; 1999 Sep; 14(3):272-3. PubMed ID: 10477494
    [No Abstract]   [Full Text] [Related]  

  • 5. Three novel aniridia mutations in the human PAX6 gene.
    Martha A; Strong LC; Ferrell RE; Saunders GF
    Hum Mutat; 1995; 6(1):44-9. PubMed ID: 7550230
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
    Glaser T; Walton DS; Maas RL
    Nat Genet; 1992 Nov; 2(3):232-9. PubMed ID: 1345175
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia.
    Gupta SK; Orr A; Bulman D; De Becker I; Guernsey DL; Neumann PE
    Can J Ophthalmol; 1999 Oct; 34(6):330-4. PubMed ID: 10604054
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Nonsense mutation in the homeobox region of the aniridia gene.
    Martha AD; Ferrell RE; Saunders GF
    Hum Mutat; 1994; 3(3):297-300. PubMed ID: 7912607
    [No Abstract]   [Full Text] [Related]  

  • 13. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
    Axton R; Hanson I; Danes S; Sellar G; van Heyningen V; Prosser J
    J Med Genet; 1997 Apr; 34(4):279-86. PubMed ID: 9138149
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia].
    Kang Y; Yuan HP; Li YY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Apr; 25(2):172-5. PubMed ID: 18393239
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Mutation in the PAX6 gene in twenty patients with aniridia.
    Chao LY; Huff V; Strong LC; Saunders GF
    Hum Mutat; 2000; 15(4):332-9. PubMed ID: 10737978
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.
    Neuner-Jehle M; Munier F; Kobetz A; Sahly I; Uteza Y; Mermoud A; Schorderet DF; Dufier JL; Abitbol M
    Hum Mutat; 1998; 12(2):138. PubMed ID: 10694925
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
    Redeker EJ; de Visser AS; Bergen AA; Mannens MM
    Mol Vis; 2008 May; 14():836-40. PubMed ID: 18483559
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 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 7.