Edghill EL - Search Results

1

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

2

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ. Gloyn AL, et al. Among authors: edghill el. Eur J Hum Genet. 2006 Jul;14(7):824-30. doi: 10.1038/sj.ejhg.5201629. Epub 2006 May 3. Eur J Hum Genet. 2006. PMID: 16670688

3

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.

4

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

5

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT. Gloyn AL, et al. Among authors: edghill el. Hum Mol Genet. 2005 Apr 1;14(7):925-34. doi: 10.1093/hmg/ddi086. Epub 2005 Feb 17. Hum Mol Genet. 2005. PMID: 15718250

6

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Edghill EL, Gloyn AL, Goriely A, Harries LW, Flanagan SE, Rankin J, Hattersley AT, Ellard S. Edghill EL, et al. J Clin Endocrinol Metab. 2007 May;92(5):1773-7. doi: 10.1210/jc.2006-2817. Epub 2007 Feb 27. J Clin Endocrinol Metab. 2007. PMID: 17327377 Free PMC article.

7

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT. Flanagan SE, et al. Among authors: edghill el. Diabetes. 2007 Jul;56(7):1930-7. doi: 10.2337/db07-0043. Epub 2007 Apr 19. Diabetes. 2007. PMID: 17446535 Free PMC article.

8

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

Edghill EL, Bingham C, Ellard S, Hattersley AT. Edghill EL, et al. J Med Genet. 2006 Jan;43(1):84-90. doi: 10.1136/jmg.2005.032854. Epub 2005 Jun 1. J Med Genet. 2006. PMID: 15930087 Free PMC article.

9

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

Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM. Ellard S, et al. Among authors: edghill el. Am J Hum Genet. 2007 Aug;81(2):375-82. doi: 10.1086/519174. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17668386 Free PMC article.

10

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

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