Carmel Toomes
Molecular Medicine Unit
University of Leeds
St James's University Hospital
Leeds
UK
Name/email consistency: high
- Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. Toomes, C., Downey, L.M., Bottomley, H.M., Mintz-Hittner, H.A., Inglehearn, C.F. Br. J. Ophthalmol (2005)
- Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). Toomes, C., Downey, L.M., Bottomley, H.M., Scott, S., Woodruff, G., Trembath, R.C., Inglehearn, C.F. Mol. Vis. (2004)
- Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Toomes, C., Bottomley, H.M., Jackson, R.M., Towns, K.V., Scott, S., Mackey, D.A., Craig, J.E., Jiang, L., Yang, Z., Trembath, R., Woodruff, G., Gregory-Evans, C.Y., Gregory-Evans, K., Parker, M.J., Black, G.C., Downey, L.M., Zhang, K., Inglehearn, C.F. Am. J. Hum. Genet. (2004)
- Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Toomes, C., Bottomley, H.M., Scott, S., Mackey, D.A., Craig, J.E., Appukuttan, B., Stout, J.T., Flaxel, C.J., Zhang, K., Black, G.C., Fryer, A., Downey, L.M., Inglehearn, C.F. Invest. Ophthalmol. Vis. Sci. (2004)
