L. W. Harries

The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development (2008)

Harries, L.W., Locke, J.M., Shields, B., Hanley, N.A., Hanley, K.P., Steele, A., ...

OBJECTIVE: Mutations in the alternatively spliced HNF4A gene cause maturity-onset diabetes of the young (MODY). We characterized the spatial and developmental expression patterns of HNF4A transcripts...

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy (2008)

Shield, J.P., Flanagan, S.E., Mackay, D.J., Harries, L.W., Proks, P., Girard, C., ...

OBJECTIVE: Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the pancreatic ATP-sensitive K(+) channel are the most common cause of permanent neonatal...

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (2007)

Zeggini, E., Weedon, M.N., Lindgren, C.M., Frayling, T.M., Elliot, K.S., Lango, H., ...

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects (2007)

Ellard, S., Flanagan, S.E., Girard, C.A., Patch, A.M., Harries, L.W., Parrish, A., ...

Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes...

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (2007)

Zeggini, E., Weedon, M.N., Lindgren, C.M., Frayling, T.M., Elliot, K.S., Lango, H., ...