Concepedia

A family with Axenfeld–Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

Robert Honkanen, Darryl Nishimura, Ruth E. Swiderski, Steven R. Bennett, Sung-Pyo Hong, Young H. Kwon, Edwin M. Stone, Val C. Sheffield, Wallace L.M. Alward

American Journal of Ophthalmology · 2003 · 142 citations · 32 references

DOI

Concepts

References

32

Identification of a Gene That Causes Primary Open Angle Glaucoma

Edwin M. Stone, John H. Fingert, Wallace L.M. Alward et al. · Science · 1997 · 1.4K citations

, , +14

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

, , +13

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

Elena V. Semina, Rebecca S. Reiter, Nancy J. Leysens et al. · Nature Genetics · 1996 · 890 citations

, , +7

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

Carl C.T. Ton, Harri Hirvonen, Hiroshi Miwa et al. · Cell · 1991 · 870 citations · Full text

, , +9

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 · 648 citations

, , +17