Edghill EL - Search Results

1

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 EL, McCulloch L, Fulton P, Beer N, Hattersley AT, Gloyn AL. Edghill EL, et al. Diabet Med. 2009 Jan;26(1):113-4. doi: 10.1111/j.1464-5491.2008.02618.x. Diabet Med. 2009. PMID: 19125775 No abstract available.

2

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 EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT. Edghill EL, et al. Diabet Med. 2006 Dec;23(12):1301-6. doi: 10.1111/j.1464-5491.2006.01999.x. Diabet Med. 2006. PMID: 17116179

3

Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes.

Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT. Rubio-Cabezas O, et al. Among authors: edghill el. Diabet Med. 2009 Oct;26(10):1070-4. doi: 10.1111/j.1464-5491.2009.02812.x. Diabet Med. 2009. PMID: 19900242

4

Low prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease.

Singh R, Edghill E, Bingham C, Ellard S, Hattersley AT, Harries LW. Singh R, et al. Diabet Med. 2007 Jul;24(7):804-6. doi: 10.1111/j.1464-5491.2007.02162.x. Diabet Med. 2007. PMID: 17596244 No abstract available.

5

HNF1B deletions in patients with young-onset diabetes but no known renal disease.

Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S. Edghill EL, et al. Diabet Med. 2013 Jan;30(1):114-7. doi: 10.1111/j.1464-5491.2012.03709.x. Diabet Med. 2013. PMID: 22587559

6

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.

De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, Hattersley AT, Ellard S. De Franco E, et al. Among authors: edghill el. Diabet Med. 2013 May;30(5):e197-200. doi: 10.1111/dme.12122. Epub 2013 Feb 28. Diabet Med. 2013. PMID: 23320570 Free PMC article.

7

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.

Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Flanagan SE, et al. Among authors: edghill el. Diabetologia. 2006 Jun;49(6):1190-7. doi: 10.1007/s00125-006-0246-z. Epub 2006 Apr 12. Diabetologia. 2006. PMID: 16609879 Free article.

8

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.

Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EA, Hattersley AT. Edghill EL, et al. Diabetes. 2004 Nov;53(11):2998-3001. doi: 10.2337/diabetes.53.11.2998. Diabetes. 2004. PMID: 15504982

9

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS. Sellick GS, et al. Among authors: edghill el. Nat Genet. 2004 Dec;36(12):1301-5. doi: 10.1038/ng1475. Epub 2004 Nov 14. Nat Genet. 2004. PMID: 15543146

10

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, Gloyn AL. Suliman SG, et al. Among authors: edghill el. Diabetes. 2009 Dec;58(12):2954-61. doi: 10.2337/db09-0787. Epub 2009 Aug 31. Diabetes. 2009. PMID: 19720790 Free PMC article.

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