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Investigative Ophthalmology & Visual Science|March 28, 2006
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humansCarla Bidinost, Natalie Hernandez, Deepak P Edward, et al.
American Journal of Medical Genetics. Part A|February 9, 2010
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical managementDaniel T Swarr, Douglas Bloom, Richard Alan Lewis, et al.
American Journal of Human Genetics|May 23, 2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritanceNicholas Katsanis, Erica R Eichers, Stephen J Ansley, et al.
The Journal of Infectious Diseases|July 13, 2010
Effect of host genetics on the development of cytomegalovirus retinitis in patients with AIDSEfe Sezgin, Douglas A Jabs, Sher L Hendrickson, et al.
Nature Chemical Biology|September 8, 2018
SALL4 mediates teratogenicity as a thalidomide-dependent cereblon substrateMary E Matyskiela, Suzana Couto, Xinde Zheng, et al.
Nature|December 6, 2005
Dissection of epistasis in oligogenic Bardet-Biedl syndromeJose L Badano, Carmen C Leitch, Stephen J Ansley, et al.
Investigative Ophthalmology & Visual Science|February 2, 2013
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaJennifer D Churchill, Sara J Bowne, Lori S Sullivan, et al.
Plos One|March 12, 2020
Targeting the Wnt signaling pathway through R-spondin 3 identifies an anti-fibrosis treatment strategy for multiple organsMingjun Zhang, Michael Haughey, Nai-Yu Wang, et al.
Human Molecular Genetics|July 3, 2003
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locusJose L Badano, Jun Chul Kim, Bethan E Hoskins, et al.
Investigative Ophthalmology & Visual Science|July 29, 2003
Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS geneShahrokh C Khani, Athanasios J Karoukis, Joyce E Young, et al.
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