Primary congenital glaucoma

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1982-2017
010203019822017

Papers overview

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Highly Cited
2009
Highly Cited
2009
Null mutations in LTBP2 cause primary congenital glaucoma.
Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by high intraocular pressure (IOP), usually… (More)
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2005
2005
Myocilin gene implicated in primary congenital glaucoma.
Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of… (More)
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Highly Cited
2003
Highly Cited
2003
Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.
Mutations in the cytochrome P450 family 1, subfamily B, polypeptide 1 (CYP1B1) gene are a common cause of human primary… (More)
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2002
2002
Molecular genetics of primary congenital glaucoma in Brazil.
PURPOSE To determine the distribution of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma (PCG… (More)
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Highly Cited
2000
Highly Cited
2000
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Primary congenital glaucoma (PCG) is an autosomal recessive disorder associated with unknown developmental defect(s) in the… (More)
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Highly Cited
1999
Highly Cited
1999
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic… (More)
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Highly Cited
1998
Highly Cited
1998
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
The autosomal recessive disorder primary congenital glaucoma (PCG) is caused by unknown developmental defect(s) of the trabecular… (More)
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Highly Cited
1998
Highly Cited
1998
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome…
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital… (More)
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Highly Cited
1998
Highly Cited
1998
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to… (More)
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1982
1982
Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset
This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall in… (More)
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