Concepedia

DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

Yunya Liu, M. E. Garrett, Brian L. Yaspan, Jessica N. Cooke Bailey, S. J. Loomis, M. Brilliant, Donald L. Budenz, William G. Christen, John H. Fingert, Douglas Gaasterland,

Investigative Ophthalmology & Visual Science · 2014 · 32 citations · 51 references

DOIFull text

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Abstract

The CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.

References

51

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Kai Wang, Mingyao Li, Dexter Hadley et al. · Genome Research · 2007 · 1.9K citations · Full text

Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

Tayebeh Rezaie, Anne H. Child, Roger A. Hitchings et al. · Science · 2002 · 1.1K citations

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

I. Stoilov · Human Molecular Genetics · 1997 · 646 citations

<i>Math5</i>is required for retinal ganglion cell and optic nerve formation

Nadean L. Brown, Sima Patel, Joseph A. Brzezinski et al. · Development · 2001 · 521 citations

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1

Sharareh Monemi · Human Molecular Genetics · 2005 · 428 citations