Fundus coloboma

Known as: Coloboma, retinochoroidal, Coloboma of the retina, Choroidoretinal coloboma 
Absence of a region of the retina, retinal pigment epithelium, and choroid. [HPO:probinson]
National Institutes of Health

Papers overview

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2015
2015
The optic vesicle comprises a pool of bi-potential progenitor cells from which the retinal pigment epithelium (RPE) and neural… (More)
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2015
2015
Baraitser–Winter, Fryns–Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous… (More)
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2011
2011
Histone methylation is the important transcription regulatory system that affects mammalian development and cell differentiation… (More)
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Review
2011
Review
2011
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve… (More)
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2010
2010
Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders… (More)
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2007
2007
Here we identify the humpty dumpty (humdy) mouse mutant with failure to close the neural tube and optic fissure, causing… (More)
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2005
2005
Townes-Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear… (More)
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2003
2003
The c-Jun NH(2)-terminal kinase (JNK) group of mitogen-activated protein kinases is stimulated in response to a wide array of… (More)
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Highly Cited
2003
Highly Cited
2003
Ocular (uveoretinal) colobomas occur in one in 10,000 individuals and present a substantive cause of congenital poor vision. The… (More)
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1996
1996
PURPOSE To categorize and describe the type of optic disc involvement and blood vessel patterns seen in patients with fundus… (More)
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