Congenital ocular coloboma (disorder)

Known as: Coloboma, Ocular, coloboma eye, Coloboma, uveoretinal 
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1935-2018
05010019352017

Papers overview

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Highly Cited
2016
Highly Cited
2016
Importance The Zika virus (ZIKV) has rapidly reached epidemic proportions, especially in northeastern Brazil, and has rapidly… (More)
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Highly Cited
2007
Highly Cited
2007
Joubert syndrome (JS) and related disorders are characterized by the ‘molar tooth sign’ (cerebellar vermis hypoplasia and… (More)
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Highly Cited
2002
Highly Cited
2002
We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia… (More)
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Highly Cited
2002
Highly Cited
2002
Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity… (More)
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Highly Cited
1999
Highly Cited
1999
The Notch signaling pathway is an evolutionarily conserved intercellular signaling mechanism essential for embryonic development… (More)
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Highly Cited
1996
Highly Cited
1996
During gestation, the paired box-containing gene Pax2 is expressed in the mid-hindbrain area, developing eye and inner ear. We… (More)
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Highly Cited
1996
Highly Cited
1996
We describe a new mouse frameshift mutation (Pax2(1Neu)) with a 1-bp insertion in the Pax2 gene. This mutation is identical to a… (More)
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Highly Cited
1995
Highly Cited
1995
Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of… (More)
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Highly Cited
1989
Highly Cited
1989
Reflectance spectra from discrete sites in the human ocular fundus were measured with an experimental reflectometer in the… (More)
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Highly Cited
1981
Highly Cited
1981
We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including… (More)
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