Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

Por Temple, I K, Shrubb, V, Lever, M, Bullman, H, Mackay, D J G
Publicado em 2007

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

Por Temple, I K, Shrubb, V, Lever, M, Bullman, H, Mackay, D J G
Publicado em 2009

Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects – expanding the clinical phenotype

Por Flanagan, S.E., Mackay, D. J. G., Greeley, S. A. W., McDonald, Timothy J., Mericq, V., Hassing, J., Richmond, E. J., Martin, W.R., Acerini, C, Kaulfers, A.M., Flynn, D.P., Popovic, J., Sperling, M.A., Hussain, K., Ellard, S., Hattersley, A.T.
Publicado em 2012

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

Por Chase, A, Leung, W, Tapper, W, Jones, A V, Knoops, L, Rasi, C, Forsberg, L A, Guglielmelli, P, Zoi, K, Hall, V, Chiecchio, L, Eder-Azanza, L, Bryant, C, Lannfelt, L, Docherty, L, White, H E, Score, J, Mackay, D J G, Vannucchi, A M, Dumanski, J P, Cross, N C P
Publicado no Leukemia (2015)