Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Por Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Publicado em 2010

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Por Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Publicado no Am J Hum Genet (2016)

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Por Toomes, Carmel, Bottomley, Helen M., Jackson, Richard M., Towns, Katherine V., Scott, Sheila, Mackey, David A., Craig, Jamie E., Jiang, Li, Yang, Zhenglin, Trembath, Richard, Woodruff, Geoffrey, Gregory-Evans, Cheryl Y., Gregory-Evans, Kevin, Parker, Michael J., Black, Graeme C. M., Downey, Louise M., Zhang, Kang, Inglehearn, Chris F.
Publicado em 2004

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

Por Parry, David A., Mighell, Alan J., El-Sayed, Walid, Shore, Roger C., Jalili, Ismail K., Dollfus, Hélène, Bloch-Zupan, Agnes, Carlos, Roman, Carr, Ian M., Downey, Louise M., Blain, Katharine M., Mansfield, David C., Shahrabi, Mehdi, Heidari, Mansour, Aref, Parissa, Abbasi, Mohsen, Michaelides, Michel, Moore, Anthony T., Kirkham, Jennifer, Inglehearn, Chris F.
Publicado em 2009

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

Por Panagiotou, Evangelia S., Sanjurjo Soriano, Carla, Poulter, James A., Lord, Emma C., Dzulova, Denisa, Kondo, Hiroyuki, Hiyoshi, Atsushi, Chung, Brian Hon-Yin, Chu, Yoyo Wing-Yiu, Lai, Connie H.Y., Tafoya, Mark E., Karjosukarso, Dyah, Collin, Rob W.J., Topping, Joanne, Downey, Louise M., Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Publicado no Am J Hum Genet (2017)