A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32

por Hattersley, Kathryn, Laurie, Kate J, Liebelt, Jan E, Gecz, Jozef, Durkin, Shane R, Craig, Jamie E, Burdon, Kathryn P
Publicado 2010

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract

por Burdon, Kathryn P., Hattersley, Kathryn, Lachke, Salil A., Laurie, Kate J., Maas, Richard L., Mackey, David A., Craig, Jamie E.
Publicado 2008

Lysosomal gene Hexb displays haploinsufficiency in a knock-in mouse model of Alzheimer’s disease

por Whyte, Lauren S., Fourrier, Célia, Hassiotis, Sofia, Lau, Adeline A., Trim, Paul J., Hein, Leanne K., Hattersley, Kathryn J., Bensalem, Julien, Hopwood, John J., Hemsley, Kim M., Sargeant, Timothy J.
Publicado 2022