Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encod...

Por Brown, David J., Kim, Theresa B., Petty, Elizabeth M., Downs, Catherine A., Martin, Donna M., Strouse, Peter J., Moroi, Sayoko E., Milunsky, Jeff M., Lesperance, Marci M.
Publicado em 2002

A Locus for Posterior Polymorphous Corneal Dystrophy (PPCD3) Maps to Chromosome 10

Por Shimizu, Satoko, Krafchak, Charles, Fuse, Nobuo, Epstein, Michael P., Schteingart, Miriam T., Sugar, Alan, Eibschitz-Tsimhoni, Maya, Downs, Catherine A., Rozsa, Frank, Trager, Edward H., Reed, David M., Boehnke, Michael, Moroi, Sayoko E., Richards, Julia E.
Publicado em 2004

Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells

Por Krafchak, Charles M. , Pawar, Hemant , Moroi, Sayoko E. , Sugar, Alan , Lichter, Paul R. , Mackey, David A. , Mian, Shahzad , Nairus, Theresa , Elner, Victor , Schteingart, Miriam T. , Downs, Catherine A. , Kijek, Theresa Guckian , Johnson, Jenae M. , Trager, Edward H. , Rozsa, Frank W. , Ali Mandal, Md Nawajes , Epstein, Michael P. , Vollrath, Douglas , Ayyagari, Radha , Boehnke, Michael , Richards, Julia E. 
Publicado em 2005

Variation in optineurin (OPTN) allele frequencies between and within populations

Por Ayala-Lugo, Rosa M., Pawar, Hemant, Reed, David M., Lichter, Paul R., Moroi, Sayoko E., Page, Michael, Eadie, James, Azocar, Veronica, Maul, Eugenio, Ntim-Amponsah, Christine, Bromley, William, Obeng-Nyarkoh, Ebenezer, Johnson, A. Tim, Kijek, Theresa Guckian, Downs, Catherine A., Johnson, Jenae M., Perez-Grossmann, Rodolfo A., Guevara-Fujita, Maria-Luisa, Fujita, Ricardo, Wallace, Margaret R., Richards, Julia E.
Publicado em 2007