Mutations in hepatocyte nuclear factor-1β and their related phenotypes
Edghill, E L, Bingham, C, Ellard, S, Hattersley, A T
Published in Journal of medical genetics (01.01.2006)
Published in Journal of medical genetics (01.01.2006)
Get full text
Journal Article
Heterozygous ABCC8 mutations are a cause of MODY
Bowman, P., Flanagan, S. E., Edghill, E. L., Damhuis, A., Shepherd, M. H., Paisey, R., Hattersley, A. T., Ellard, S.
Published in Diabetologia (2012)
Published in Diabetologia (2012)
Get full text
Journal Article
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency
De Franco, E., Shaw-Smith, C., Flanagan, S. E., Edghill, E. L., Wolf, J., Otte, V., Ebinger, F., Varthakavi, P., Vasanthi, T., Edvardsson, S., Hattersley, A. T., Ellard, S.
Published in Diabetic medicine (01.05.2013)
Published in Diabetic medicine (01.05.2013)
Get full text
Journal Article
HNF1B deletions in patients with young-onset diabetes but no known renal disease
Edghill, E. L., Stals, K., Oram, R. A., Shepherd, M. H., Hattersley, A. T., Ellard, S.
Published in Diabetic medicine (01.01.2013)
Published in Diabetic medicine (01.01.2013)
Get full text
Journal Article
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
Ellard, S, Thomas, K, Edghill, E. L, Owens, M, Ambye, L, Cropper, J, Little, J, Strachan, M, Stride, A, Ersoy, B, Eiberg, H, Pedersen, O, Shepherd, M. H, Hansen, T, Harries, L. W, Hattersley, A. T
Published in Diabetologia (01.11.2007)
Published in Diabetologia (01.11.2007)
Get full text
Journal Article
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1β in human pancreatic development
Edghill, E. L., Bingham, C., Slingerland, A. S., Minton, J. A. L., Noordam, C., Ellard, S., Hattersley, A. T.
Published in Diabetic medicine (01.12.2006)
Published in Diabetic medicine (01.12.2006)
Get full text
Journal Article
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes
Edghill, E. L., Khamis, A., Weedon, M. N., Walker, M., Hitman, G. A., McCarthy, M. I., Owen, K. R., Ellard, S., T Hattersley, A., Frayling, T. M.
Published in Diabetic medicine (01.06.2011)
Published in Diabetic medicine (01.06.2011)
Get full text
Journal Article
Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction
Edghill, E. L., McCulloch, L., Fulton, P., Beer, N., Hattersley, A. T., Gloyn, A. L.
Published in Diabetic medicine (01.01.2009)
Published in Diabetic medicine (01.01.2009)
Get full text
Journal Article
The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation
Klupa, T, Edghill, E L, Nazim, J, Sieradzki, J, Ellard, S, Hattersley, A T, Malecki, M T
Published in Diabetologia (01.05.2005)
Published in Diabetologia (01.05.2005)
Get full text
Journal Article
Hepatocyte nuclear factor-1 gene deletions--a common cause of renal disease
Edghill, E. L., Oram, R. A., Owens, M., Stals, K. L., Harries, L. W., Hattersley, A. T., Ellard, S., Bingham, C.
Published in Nephrology, dialysis, transplantation (30.10.2007)
Published in Nephrology, dialysis, transplantation (30.10.2007)
Get full text
Journal Article
Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes
Gloyn, Anna L, Pearson, Ewan R, Antcliff, Jennifer F, Proks, Peter, Bruining, G. Jan, Slingerland, Annabelle S, Howard, Neville, Srinivasan, Shubha, Silva, José M.C.L, Molnes, Janne, Edghill, Emma L, Frayling, Timothy M, Temple, I. Karen, Mackay, Deborah, Shield, Julian P.H, Sumnik, Zdenek, van Rhijn, Adrian, Wales, Jerry K.H, Clark, Penelope, Gorman, Shaun, Aisenberg, Javier, Ellard, Sian, Njølstad, Pål R, Ashcroft, Frances M, Hattersley, Andrew T
Published in The New England journal of medicine (29.04.2004)
Published in The New England journal of medicine (29.04.2004)
Get full text
Journal Article
Mutations in PTF1A cause pancreatic and cerebellar agenesis
Houlston, Richard S, Sellick, Gabrielle S, Barker, Karen T, Stolte-Dijkstra, Irene, Fleischmann, Christina, J Coleman, Richard, Garrett, Christine, Gloyn, Anna L, Edghill, Emma L, Hattersley, Andrew T, Wellauer, Peter K, Goodwin, Graham
Published in Nature genetics (01.12.2004)
Published in Nature genetics (01.12.2004)
Get full text
Journal Article
Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects
Ellard, Sian, Flanagan, Sarah E., Girard, Christophe A., Patch, Ann-Marie, Harries, Lorna W., Parrish, Andrew, Edghill, Emma L., Mackay, Deborah J.G., Proks, Peter, Shimomura, Kenju, Haberland, Holger, Carson, Dennis J., Shield, Julian P.H., Hattersley, Andrew T., Ashcroft, Frances M.
Published in American journal of human genetics (01.08.2007)
Published in American journal of human genetics (01.08.2007)
Get full text
Journal Article
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred
Kerecuk, Larissa, Sajoo, Anaar, McGregor, Lesley, Berg, Jonathan, Haq, Mushfequr R., Sebire, Neil J., Bingham, Coralie, Edghill, Emma L., Ellard, Sian, Taylor, Judy, Rigden, Sue, Flinter, Frances A., Woolf, Adrian S.
Published in Nephrology, dialysis, transplantation (01.01.2007)
Published in Nephrology, dialysis, transplantation (01.01.2007)
Get full text
Journal Article
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development
Edghill, E L, Bingham, C, Slingerland, A S, Minton, J A L, Noordam, C, Ellard, S, Hattersley, A T
Published in Diabetic medicine (01.12.2006)
Get full text
Published in Diabetic medicine (01.12.2006)
Journal Article