Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium von Thompson, Debra A., Iannaccone, Alessandro, Ali, Robin R., Arshavsky, Vadim Y., Audo, Isabelle, Bainbridge, James W. B., Besirli, Cagri G., Birch, David G., Branham, Kari E., Cideciyan, Artur, Daiger, Steven P., Dalkara, Deniz, Duncan, Jacque L., Fahim, Abigail T., Flannery, John G., Gattegna, Roberto, Heckenlively, John R., Heon, Elise, Jayasundera, K. Thiran, Khan, Naheed W., Klassen, Henry, Leroy, Bart P., Molday, Robert S., Musch, David C., Pennesi, Mark E., Petersen-Jones, Simon M., Pierce, Eric A., Rao, Rajesh C., Reh, Thomas A., Sahel, Jose A., Sharon, Dror, Sieving, Paul A., Strettoi, Enrica, Yang, Paul, Zacks, David N.

Volltext

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa von Sullivan, Lori S, Koboldt, Daniel C, Bowne, Sara J, Lang, Steven, Blanton, Susan H, Cadena, Elizabeth, Avery, Cheryl E, Lewis, Richard A, Webb-Jones, Kaylie, Wheaton, Dianna H, Birch, David G, Coussa, Razck, Ren, Huanan, Lopez, Irma, Chakarova, Christina, Koenekoop, Robert K, Garcia, Charles A, Fulton, Robert S, Wilson, Richard K, Weinstock, George M, Daiger, Stephen P

Volltext

Progressive Photoreceptor Degeneration, Outer Segment Dysplasia, and Rhodopsin Mislocalization in Mice with Targeted Disruption of the Retinitis Pigmentosa-1 (Rp1) Gene von Gao, Jiangang, Cheon, Kyeongmi, Nusinowitz, Steven, Liu, Qin, Bei, Di, Atkins, Karen, Azimi, Asif, Daiger, Stephen P., Farber, Debora B., Heckenlively, John R., Pierce, Eric A., Sullivan, Lori S., Zuo, Jian

Volltext

Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25 von Sullivan, Lori S., Zhao, Xinping, Bowne, Sara J., Xu, Xiangyang, Daiger, Stephen P., Yee, Steven B., Yee, Richard W.

Volltext