Edghill EL - Search Results

1

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C. Edghill EL, et al. Nephrol Dial Transplant. 2008 Feb;23(2):627-35. doi: 10.1093/ndt/gfm603. Epub 2007 Oct 30. Nephrol Dial Transplant. 2008. PMID: 17971380

2

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.

3

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

4

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.

Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT. Ellard S, et al. Among authors: edghill el. Diabetologia. 2007 Nov;50(11):2313-7. doi: 10.1007/s00125-007-0798-6. Epub 2007 Sep 8. Diabetologia. 2007. PMID: 17828387

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

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome.

Murray PJ, Thomas K, Mulgrew CJ, Ellard S, Edghill EL, Bingham C. Murray PJ, et al. Among authors: edghill el. Nephrol Dial Transplant. 2008 Jul;23(7):2412-5. doi: 10.1093/ndt/gfn169. Epub 2008 Apr 14. Nephrol Dial Transplant. 2008. PMID: 18411231 No abstract available.

7

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C. Oram RA, et al. Among authors: edghill el. Am J Obstet Gynecol. 2010 Oct;203(4):364.e1-5. doi: 10.1016/j.ajog.2010.05.022. Epub 2010 Jul 15. Am J Obstet Gynecol. 2010. PMID: 20633866

8

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.

9

Heterozygous ABCC8 mutations are a cause of MODY.

Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S. Bowman P, et al. Among authors: edghill el. Diabetologia. 2012 Jan;55(1):123-7. doi: 10.1007/s00125-011-2319-x. Epub 2011 Oct 12. Diabetologia. 2012. PMID: 21989597

10

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 triphosphate channel.

Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S. Gloyn AL, et al. Among authors: edghill el. J Clin Endocrinol Metab. 2004 Aug;89(8):3932-5. doi: 10.1210/jc.2004-0568. J Clin Endocrinol Metab. 2004. PMID: 15292329

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