Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. द्वारा Flanagan, SE, Edghill, E, Gloyn, A, Ellard, S, Hattersley, A

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans. द्वारा van de Bunt, M, Edghill, E, Hussain, K, Ellard, S, Gloyn, A

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. द्वारा Edghill, E, McCulloch, L, Fulton, P, Beer, N, Hattersley, A, Gloyn, A

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. द्वारा Edghill, E, Gloyn, A, Goriely, A, Harries, L, Flanagan, SE, Rankin, J, Hattersley, A, Ellard, S

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine tripho... द्वारा Gloyn, A, Cummings, E, Edghill, E, Harries, L, Scott, R, Costa, T, Temple, I, Hattersley, A, Ellard, S

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years. द्वारा Edghill, E, Gloyn, A, Gillespie, K, Lambert, A, Raymond, N, Swift, P, Ellard, S, Gale, E, Hattersley, A

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. द्वारा Gloyn, A, Diatloff-Zito, C, Edghill, E, Bellanné-Chantelot, C, Nivot, S, Coutant, R, Ellard, S, Hattersley, A, Robert, J

Erratum: Mutations in ATP-sensitive K+ cannel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (Diabetes (2007) 56 (1930-1937)) द्वारा Flanagan, SE, Patch, A, Mackay, D, Edghill, E, Gloyn, A, Robinson, D, Shield, J, Temple, K, Ellard, S, Hattersley, A

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. द्वारा Edghill, E, Khamis, A, Weedon, M, Walker, M, Hitman, G, McCarthy, M, Owen, K, Ellard, S, T Hattersley, A, Frayling, T

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007) द्वारा Flanagan, SE, Patch, A, Mackay, D, Edghill, E, Gloyn, A, Robinson, D, Shield, J, Temple, K, Ellard, S, Hattersley, A

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. द्वारा Flanagan, SE, Patch, A, Mackay, D, Edghill, E, Gloyn, A, Robinson, D, Shield, J, Temple, K, Ellard, S, Hattersley, A

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. द्वारा Edghill, E, Minton, J, Groves, C, Flanagan, SE, Patch, A, Rubio-Cabezas, O, Shepherd, M, Lenzen, S, McCarthy, M, Ellard, S, Hattersley, A

Insulin resistance and intrauterine growth retardation due to a novel balanced translocation (46,t(7;19)(p15.2;p13.2)) which disrupts the insulin receptor (INSR) gene द्वारा Suliman, S, Stanik, J, Misovicova, N, Gasperikova, D, Wilson, N, Edghill, E, Sandrikova, V, Elliot, K, Barak, L, Ellard, S, Volpi, E, Klimes, I, Gloyn, A

Mutations in PTF1A cause pancreatic and cerebellar agenesis. द्वारा Sellick, G, Barker, K, Stolte-Dijkstra, I, Fleischmann, C, Coleman, R, Garrett, C, Gloyn, A, Edghill, E, Hattersley, A, Wellauer, P, Goodwin, G, Houlston, R

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and met... द्वारा Suliman, S, Stanik, J, McCulloch, L, Wilson, N, Edghill, E, Misovicova, N, Gasperikova, D, Sandrikova, V, Elliott, K, Barak, L, Ellard, S, Volpi, E, Klimes, I, Gloyn, A

Relapsing diabetes can result from moderately activating mutations in KCNJ11. द्वारा Gloyn, A, Reimann, F, Girard, C, Edghill, E, Proks, P, Pearson, E, Temple, I, Mackay, D, Shield, J, Freedenberg, D, Noyes, K, Ellard, S, Ashcroft, F, Gribble, F, Hattersley, A

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. द्वारा Ellard, S, Flanagan, SE, Girard, C, Patch, A, Harries, L, Parrish, A, Edghill, E, Mackay, D, Proks, P, Shimomura, K, Haberland, H, Carson, D, Shield, J, Hattersley, A, Ashcroft, F

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis... द्वारा Beer, N, Osbak, K, van de Bunt, M, Tribble, N, Steele, A, Wensley, K, Edghill, E, Colcough, K, Barrett, A, Valentínová, L, Rundle, J, Raimondo, A, Grimsby, J, Ellard, S, Gloyn, A

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. द्वारा Gloyn, A, Pearson, E, Antcliff, J, Proks, P, Bruining, G, Slingerland, A, Howard, N, Srinivasan, S, Silva, J, Molnes, J, Edghill, E, Frayling, T, Temple, I, Mackay, D, Shield, J, Sumnik, Z, van Rhijn, A, Wales, J, Clark, P, Gorman, S, Aisenberg, J, Ellard, S, Njølstad, P, Ashcroft, F, Hattersley, A