Publications - Beckwith-Wiedemann Syndrome

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A maternally methylated CpG-island in KvLQT1 is associated with a paternally expressed transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Higgins, M.J., Smilinich, N.J., Day, C.D., Cooper, P.R., Maher, E.R. and Shows, T.B. Amer. Soc. Hum. Genetics, Denver, Oct. 1998. [abstract] 

A maternally methylated CpG-island in KvLQT1 is associated with a paternally expressed transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Smilinich, N.J., Day, C.D., Fitzpatraick, G.V., Caldwell, G.M., Lossie, A.C., Cooper, P.R., Smallwoood, A.C., Joyce, J.A., Schofield, P.N., Reik, W., Nicholls, R.D., Weksberg, R., Driscoll, D.J., Mahler, E.R., Shows, T.B., and Higgins, J.J. Proc. Natl. Acad. Sci. 96:8064-8069, 1999. [paper]