304 related articles for article (PubMed ID: 10737978)
1. 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]
2. Missense mutations in the DNA-binding region and termination codon in PAX6.
Chao LY; Mishra R; Strong LC; Saunders GF
Hum Mutat; 2003 Feb; 21(2):138-45. PubMed ID: 12552561
[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. 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]
5. Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia.
Gupta SK; De Becker I; Guernsey DL; Neumann PE
Am J Ophthalmol; 1998 May; 125(5):687-92. PubMed ID: 9625553
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Two neonates with congenital aniridia: the necessity of genetic investigation].
van Os E; Niemarkt HJ; Verreussel MJ; Cruysberg JR; Bok LA; Spruijt L
Ned Tijdschr Geneeskd; 2008 Mar; 152(10):569-73. PubMed ID: 18402324
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Grønskov K; Rosenberg T; Sand A; Brøndum-Nielsen K
Eur J Hum Genet; 1999 Apr; 7(3):274-86. PubMed ID: 10234503
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies.
Balay L; Totten E; Okada L; Zell S; Ticho B; Israel J; Kogan J
Am J Med Genet A; 2016 Jan; 170A(1):202-9. PubMed ID: 26419218
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
Crolla JA; van Heyningen V
Am J Hum Genet; 2002 Nov; 71(5):1138-49. PubMed ID: 12386836
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. [Molecular genetic study of the PAX6 gene in aniridia patients].
Wolf M; Zabel B; Lorenz B; Blankenagel A; Ghorbani MB; Schwenn O; Wildhardt G
Ophthalmologe; 1998 Dec; 95(12):828-30. PubMed ID: 10025146
[TBL] [Abstract][Full Text] [Related]
18. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
Robinson DO; Howarth RJ; Williamson KA; van Heyningen V; Beal SJ; Crolla JA
Am J Med Genet A; 2008 Mar; 146A(5):558-69. PubMed ID: 18241071
[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. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
Grønskov K; Olsen JH; Sand A; Pedersen W; Carlsen N; Bak Jylling AM; Lyngbye T; Brøndum-Nielsen K; Rosenberg T
Hum Genet; 2001 Jul; 109(1):11-8. PubMed ID: 11479730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]