Colclough K - Search Results

1

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA. Mirshahi UL, et al. Among authors: colclough k. Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17. Am J Hum Genet. 2022. PMID: 36257325 Free PMC article.

2

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S. Thomson KL, et al. Among authors: colclough k. Hum Mutat. 2003 Nov;22(5):417. doi: 10.1002/humu.9186. Hum Mutat. 2003. PMID: 14517956

3

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S. Proks P, et al. Among authors: colclough k. Hum Mol Genet. 2006 Jun 1;15(11):1793-800. doi: 10.1093/hmg/ddl101. Epub 2006 Apr 13. Hum Mol Genet. 2006. PMID: 16613899

4

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S, Colclough K. Ellard S, et al. Among authors: colclough k. Hum Mutat. 2006 Sep;27(9):854-69. doi: 10.1002/humu.20357. Hum Mutat. 2006. PMID: 16917892

5

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K. Kapoor RR, et al. Among authors: colclough k. Diabetes. 2008 Jun;57(6):1659-63. doi: 10.2337/db07-1657. Epub 2008 Feb 11. Diabetes. 2008. PMID: 18268044

6

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S. Rankin J, et al. Among authors: colclough k. Am J Med Genet A. 2008 Jun 15;146A(12):1530-42. doi: 10.1002/ajmg.a.32331. Am J Med Genet A. 2008. PMID: 18478590

7

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.

Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, Hattersley AT, Weedon MN. Lango Allen H, et al. Among authors: colclough k. Diabetes. 2010 Jan;59(1):266-71. doi: 10.2337/db09-0555. Epub 2009 Sep 30. Diabetes. 2010. PMID: 19794065 Free PMC article.

8

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Shields BM, et al. Among authors: colclough k. Diabetologia. 2010 Dec;53(12):2504-8. doi: 10.1007/s00125-010-1799-4. Epub 2010 May 25. Diabetologia. 2010. PMID: 20499044

9

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes.

McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, Williams A, Hattersley AT, Ellard S. McDonald TJ, et al. Among authors: colclough k. Diabet Med. 2011 Sep;28(9):1028-33. doi: 10.1111/j.1464-5491.2011.03287.x. Diabet Med. 2011. PMID: 21395678

10

Cystatin C is not a good candidate biomarker for HNF1A-MODY.

Nowak N, Szopa M, Thanabalasingham G, McDonald TJ, Colclough K, Skupien J, James TJ, Kiec-Wilk B, Kozek E, Mlynarski W, Hattersley AT, Owen KR, Malecki MT. Nowak N, et al. Among authors: colclough k. Acta Diabetol. 2013 Oct;50(5):815-20. doi: 10.1007/s00592-012-0378-1. Epub 2012 Feb 19. Acta Diabetol. 2013. PMID: 22350134 Free PMC article.

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