Citations for
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia.
Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA.
Am J Hum Genet 93(6):1126-34. doi: 10.1016/j.ajhg.2013.10.028. Epub 2013 Nov 27. 2013
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 146(5):558-69. 2008
Pax6 3' deletion results in aniridia, autism and mental retardation.
Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH.
Hum Genet 123(4):371-8. Epub 2008 Mar 6. Review. 2008
A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.
Bandah D, Rosenmann A, Blumenfeld A, Averbukh E, Banin E, Sharon D.
Mol Vis 14:142-5.PMID: 18334930 2008
Three novel mutations of the PAX6 gene in Japanese aniridia patients.
Kawano T, Wang C, Hotta Y, Sato M, Iwata-Amano E, Hikoya A, Fujita N, Koyama N, Shirai S, Azuma N, Ohtsubo M, Shimizu N, Minoshima S.
J Hum Genet 52(7):571-4. Epub 2007 Jun 14. 2007
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 ol Vis. 2007 2007
Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.
Wang P, Guo X, Jia X, Li S, Xiao X, Zhang Q.
Mol Vis 12:644-8. 2006
Molecular analysis of a human PAX6 homeobox mutant.
D'Elia AV, Puppin C, Pellizzari L, Pianta A, Bregant E, Lonigro R, Tell G, Fogolari F, van Heyningen V, Damante G.
Eur J Hum Genet 14(6):744-51. 2006
PAX6 mutations: genotype-phenotype correlations.
Tzoulaki I, White IM, Hanson IM.
BMC Genet 6(1):27. 2005
Missense mutations in the DNA-binding region and termination codon in PAX6.
Chao LY, Mishra R, Strong LC, Saunders GF.
Hum Mutat 21(2):138-45. 2003
11PAX6, AN
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.
Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V.
Nat Genet 28(3):214-6. 2001
Mutation in the PAX6 gene in twenty patients with aniridia.
Chao LY, Huff V, Strong LC, Saunders GF.
Hum Mutat 15(4):332-9. 2000
13AN, PAX6
PAX6 mutations reviewed.
Prosser J, van Heyningen V.
Hum Mutat 11(2):93-108. 1998
14AN, PAX6
Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.
Singh S, et al.
J Biol Chem 273 : 21531-21541. 1998
15AN, PAX6
Missense mutations in the PAX6 gene aniridia.
Azuma N, et al.
Invest Ophthalmol Vis Sci 39 : 2524-2528. 1998
16AN, PAX6
Functional analysis of paired box missense mutations in the PAX6 gene.
Tang HK, et al.
Hum Mol Genet 6 : 381-386. 1997
17AN, PAX6
The incidence of PAX6 mutation in patients with simple aniridia : an evaluation of mutation detection in 12 cases.
Axton R, et al.
J Med Genet 34 : 279- 286. 1997
18AN, PAX6
Identification of a novel PAX6 gene mutation in an aniridia patient.
Sahly I, et al.
Hum Mutat 7 : 377. 1996
19AN, PAX6
A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia.
Drechsler M, et al.
Hum Genet 98 : 297-303. 1996
20AN, PAX6
Influence of PAX6 gene dosage on development : overexpression causes severe eye abnormalities.
Schedl A, et al.
Cell 86 : 71-82. 1996
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.
Fantes J, et al.
Hum Mol Genet 4 : 415-422. 1995
22AN, PAX6
A new PAX6 mutation in familial aniridia.
Hanson I, et al.
J Med Genet 32 : 488-489. 1995
23AN, PAX6
Three novel aniridia mutations in the human PAX6 gene.
Martha A, et al.
Hum Mutat 6 : 44-49. 1995
24AN, PAX6
Autosomal dominant keratitis: a possible aniridia variant.
Pearce WG, Mielke BW, Hassard DT, Climenhaga HW, Climenhaga DB, Hodges EJ.
Can J Ophthalmol 30(3):131-7. 1995
25PAX6, AN
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
Hanson IM, et al.
Nat Genet 6 : 168-173. 1994
26PAX6, AN
Nonsense mutation in the homeobox region of the aniridia gene.
Martha AD, et al.
Hum Mutat 3 : 297-300. 1994
27AN, PAX6
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.
Martha A, et al.
Am J Hum Genet 54 : 801-811. 1994
Homology of the eyeless gene of Drosophila to the small eye gene in mice and aniridia in humans.
Quiring R, et al.
Science 265 : 785-789. 1994
29AN, PAX6
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.
Glaser T, et al.
Nat Genet 7 : 463-471. 1994
Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene.
Drechsler M, et al.
Hum Genet 94 : 331-338. 1994
31AN, PAX6
Mutations in the PAX6 gene in patients with hereditary aniridia.
Davis A, et al.
Hum Mol Genet 2 : 2093-2097. 1993
Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization.
Fukushima Y, et al.
Hum Genet 91 : 205-209. 1993
33AN, PAX6
PAX6 mutations in aniridia.
Hanson IM, et al.
Hum Mol Genet 2 : 915-920. 1993
Mouse small eye results from mutations in a paired-like homeobox-containing gene.
Hill RE, et al.
Nature 355 : 750-751. 1992
Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13.
Lyons LA, et al.
Genomics 13 : 925-930. 1992
The human PAX6 gene is mutated in 2 patients with aniridia.
Jordan T, et al.
Nat Genet 1 : 328-332. 1992
37AN, PAX6
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
Glaser T, et al.
Nat Genet 2 : 232-239. 1992
A conserved sequence region between AN2 and FSHB.
Schwartz F, et al.
(HGM11) Cytogenet Cell Genet 58 : 1970. 1991
39AN, PAX6
Positional cloning and characterization of a paired box- and homeobox-containing gene from aniridia region.
Ton CCT, et al.
Cell 67 : 1059-1074. 1991
Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2).
van der Meer-de Jong R, et al.
Genomics 7 : 270-275. 1990
Rapid isolation of moderate and highly poymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11.
Boyd PA, et al.
Hum Genet 81 : 349-352. 1989
Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
Gessler M, Simola KO, Bruns GA.
Science 244 : 1575-1578. 1989
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.
Pettenati MJ, et al.
Am J Med Genet 34 : 230-232. 1989
CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia.
Bickmore WA, et al.
Genomics 5 : 685-693. 1989
Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family.
Mannens M, et al.
Cytogenet Cell Genet 52 : 32-36. 1989
Long-range restriction map around 11p13 aniridia locus.
Davis LM, et al.
Somat Cell Mol Genet 15 : 605-615. 1989
47AN, WAGR, D11S93, D11S95
Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.
Davis LM, et al.
Science 241 : 840-842. 1988
Aniridia 1 : Update of linkage to ACP.
Ferrell RE, et al.
(HGM9) Cytogenet Cell Genet 46 : 614. 1987
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].
Moore JW, et al.
Hum Genet 72 : 297-302. 1986
Familial aniridia and translocation t(4;11)(q22;p13) without Wilms'tumor.
Simola KOJ, et al.
Hum Genet 63 : 158-161. 1983
Aniridia caused by a heritable chromosome 11 deletion.
Hittner HM, et al.
Ophthalmology 86 : 1173-1183. 1979