Aniridia

Known as: AN1, Congenital Aniridia, ANIRIDIA II, FORMERLY 
A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a… (More)
National Institutes of Health

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Highly Cited
2000
Highly Cited
2000
Aniridia is a panocular human eye malformation caused by heterozygous null mutations within PAX6, a paired-box transcription… (More)
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Highly Cited
1995
Highly Cited
1995
Current evidence suggests that aniridia (absence of iris) is caused by loss of function of one copy of the PAX6 gene, which maps… (More)
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Highly Cited
1994
Highly Cited
1994
A Drosophila gene that contains both a paired box and a homeobox and has extensive sequence homology to the mouse Pax-6 (Small… (More)
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Highly Cited
1994
Highly Cited
1994
The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box DNA–binding protein. To study this… (More)
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Highly Cited
1992
Highly Cited
1992
Aniridia is a semidominant disorder in which development of the iris, lens, cornea and retina is disturbed. The mouse mutation… (More)
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Highly Cited
1992
Highly Cited
1992
Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN… (More)
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Highly Cited
1991
Highly Cited
1991
Based on the map location of the aniridia (AN) locus in human chromosomal band 11p13, we have cloned a candidate AN cDNA… (More)
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Highly Cited
1991
Highly Cited
1991
SMALL eye (Sey) in mouse is a semidominant mutation which in the homozygous condition results in the complete lack of eyes and… (More)
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Highly Cited
1979
Highly Cited
1979
A 7-year-old boy with aniridia, Wilms' tumor, and mental retardation, previously reported as having an interstitial deletion of… (More)
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Highly Cited
1978
Highly Cited
1978
The triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) is the characteristic clinical feature of three… (More)
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