110 related articles for article (PubMed ID: 9671274)
1. A new set of primers for mutation analysis of the human PAX6 gene.
Love J; Axton R; Churchill A; van Heyningen V; Hanson I
Hum Mutat; 1998; 12(2):128-34. PubMed ID: 9671274
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
Hanson IM; Fletcher JM; Jordan T; Brown A; Taylor D; Adams RJ; Punnett HH; van Heyningen V
Nat Genet; 1994 Feb; 6(2):168-73. PubMed ID: 8162071
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly.
Jia X; Guo X; Jia X; Xiao X; Li S; Zhang Q
Mol Vis; 2010 Apr; 16():676-81. PubMed ID: 20405024
[TBL] [Abstract][Full Text] [Related]
6. PAX 6 is normal in most cases of Peters' anomaly.
Churchill AJ; Booth AP; Anwar R; Markham AF
Eye (Lond); 1998; 12 ( Pt 2)():299-303. PubMed ID: 9683959
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
Mirzayans F; Pearce WG; MacDonald IM; Walter MA
Am J Hum Genet; 1995 Sep; 57(3):539-48. PubMed ID: 7668281
[TBL] [Abstract][Full Text] [Related]
14. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
Sonoda S; Isashiki Y; Tabata Y; Kimura K; Kakiuchi T; Ohba N
Graefes Arch Clin Exp Ophthalmol; 2000 Jul; 238(7):552-8. PubMed ID: 10955655
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.
Axton RA; Hanson IM; Love J; Seawright A; Prosser J; van Heyningen V
Mol Cell Probes; 1997 Aug; 11(4):287-92. PubMed ID: 9281415
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
Azuma N; Yamaguchi Y; Handa H; Hayakawa M; Kanai A; Yamada M
Am J Hum Genet; 1999 Sep; 65(3):656-63. PubMed ID: 10441571
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]