Aniridia-Wilms-tumor syndrome is an autosomal dominant disorder that is caused by microdeletions including neighboring genes PAX6 and WT1.
Wilms tumor | ||||
Aniridia-Wilms-tumor syndrome | ||||
PAX6 | ||||
WT1 | ||||
Denys-Drash syndrome | ||||
Somatic nephroblastoma | ||||
WAGR syndrome | ||||
1. |
Mannens M et al. (1989) Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family. |
2. |
Crolla JA et al. (1996) FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13). |
3. |
Axton R et al. (1997) The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. |
4. |
Prosser J et al. (1998) PAX6 mutations reviewed. |
5. |
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6. |
Collinson JM et al. (2001) Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye. |
7. |
Crolla JA et al. (2002) Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. |
8. |
Recchia FM et al. (2002) Optical coherence tomography in the diagnosis of foveal hypoplasia. |
9. |
Holland EJ et al. (2003) Management of aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique. |
10. |
Arroyave CP et al. (2003) Use of glaucoma drainage devices in the management of glaucoma associated with aniridia. |
11. |
GROVE JH et al. (1961) A family study of aniridia. |
12. |
Brandt JD et al. (2004) Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia. |
13. |
Lyons LA et al. (1992) Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13. |
14. |
Shaw MW et al. (1960) Congenital Aniridia. |
15. |
Gessler M et al. (1989) Cloning of breakpoints of a chromosome translocation identifies the AN2 locus. |
16. |
Sisodiya SM et al. (2001) PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. |
17. |
Pettenati MJ et al. (1989) Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. |
18. |
Davis LM et al. (1988) Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci. |
19. |
Moore JW et al. (1986) Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. |
20. |
Rutledge JC et al. (1986) A balanced translocation in mice with a neurological defect. |
21. |
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22. |
Turleau C et al. (1984) Del11p13/nephroblastoma without aniridia. |
23. |
Simola KO et al. (1983) Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor. |
24. |
Narahara K et al. (1984) Regional mapping of catalase and Wilms tumoraniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305--p1306. |
25. |
Ferrell RE et al. (1980) Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2. |
26. |
Hittner HM et al. (1980) Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria. |
27. |
Boué A et al. (1980) [Congenital adrenal hyperplasia and HLA antigens] |
28. |
Fukushima Y et al. (1993) Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. |
29. |
Funderburk SJ et al. (1977) Mental retardation associated with "balanced" chromosome rearrangements. |
30. |
Elsas FJ et al. (1977) Familial aniridia with preserved ocular function. |
31. |
Hanson IM et al. (1993) PAX6 mutations in aniridia. |
32. |
Lauderdale JD et al. (2000) 3' deletions cause aniridia by preventing PAX6 gene expression. |
33. |
Grønskov K et al. (2001) Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. |
34. |
Malandrini A et al. (2001) PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. |
35. |
Morrison D et al. (2002) National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. |
36. |
Curran RE et al. (1976) Isolated foveal hypoplasia. |
37. |
Stone DL et al. (1976) Congenital central corneal leukoma (Peters' anomaly). |
38. |
Ramaesh T et al. (2003) Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy. |
39. |
Mitchell TN et al. (2003) Polymicrogyria and absence of pineal gland due to PAX6 mutation. |
40. |
Jordan T et al. (1992) The human PAX6 gene is mutated in two patients with aniridia. |
41. |
Fantes JA et al. (1992) Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. |
42. |
D'Elia AV et al. (2006) Molecular analysis of a human PAX6 homeobox mutant. |
43. |
Atchaneeyasakul LO et al. (2006) Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. |
44. |
Ramaesh T et al. (2006) Increased apoptosis and abnormal wound-healing responses in the heterozygous Pax6+/- mouse cornea. |
45. |
Hill RE et al. () Mouse small eye results from mutations in a paired-like homeobox-containing gene. |
46. |
Ton CC et al. (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. |
47. |
Li S et al. (2007) The requirement of pax6 for postnatal eye development: evidence from experimental mouse chimeras. |
48. |
Davis LK et al. (2008) Pax6 3' deletion results in aniridia, autism and mental retardation. |
49. |
Glaser T et al. (1990) A mouse model of the aniridia-Wilms tumor deletion syndrome. |
50. |
van der Meer-de Jong R et al. (1990) Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). |
51. |
Oliver MD et al. (1987) Isolated foveal hypoplasia. |
52. |
Martha A et al. (1995) Three novel aniridia mutations in the human PAX6 gene. |
53. |
Fantes J et al. (1995) Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. |
54. |
Quiring R et al. (1994) Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. |
55. |
Glaser T et al. (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. |
56. |
Matsuo T et al. (1993) A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. |
57. |
None (1994) Position-effect variegation and the new biology of heterochromatin. |
58. |
None (1994) On the evolution of eyes: would you like it simple or compound? |
59. |
Schedl A et al. (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. |
60. |
OMIM.ORG article Omim 106210 |