Anophthalmos

Known as: Agenesis of eye, Congenital absence of eye, Anophthalmias 
A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit.
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Somatic Addition of Sex Combs Like 1 (ASXL1) mutations occur in 10-30% of patients with myeloid malignancies, most commonly in… (More)
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Highly Cited
2010
Highly Cited
2010
BACKGROUND The National Birth Defects Prevention Network collects state-specific birth defects surveillance data for annual… (More)
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Review
2010
Review
2010
Organogenesis of the eye is a multistep process that starts with the formation of optic vesicles followed by invagination of the… (More)
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Highly Cited
2006
Highly Cited
2006
Approximately 10% of humans with anophthalmia (absent eye) or severe microphthalmia (small eye) show haploid insufficiency due to… (More)
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Highly Cited
2006
Highly Cited
2006
The transcription factor SOX2 is expressed most notably in the developing CNS and placodes, where it plays critical roles in… (More)
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Highly Cited
2005
Highly Cited
2005
Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a… (More)
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Highly Cited
2003
Highly Cited
2003
While roles in adhesion and morphogenesis have been documented for classical cadherins, the nonclassical cadherins are much less… (More)
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Highly Cited
1996
Highly Cited
1996
Holoprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and… (More)
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Highly Cited
1995
Highly Cited
1995
BMP-7/OP-1, a member of the transforming growth factor-beta (TGF-beta) family of secreted growth factors, is expressed during… (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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