Flanagan SE - Search Results

1

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.

Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J; ADA/EASD Precision Medicine Diabetes Initiative; Misra S, Aukrust I, de Franco A, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL. Murphy R, et al. Among authors: flanagan se. medRxiv [Preprint]. 2023 Apr 19:2023.04.15.23288269. doi: 10.1101/2023.04.15.23288269. medRxiv. 2023. PMID: 37131594 Free PMC article. Preprint.

2

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. Diabetologia. 2006 Jun;49(6):1190-7. doi: 10.1007/s00125-006-0246-z. Epub 2006 Apr 12. Diabetologia. 2006. PMID: 16609879 Free article.

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: flanagan se. 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

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group. Pearson ER, et al. Among authors: flanagan se. N Engl J Med. 2006 Aug 3;355(5):467-77. doi: 10.1056/NEJMoa061759. N Engl J Med. 2006. PMID: 16885550 Free article.

5

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. Among authors: flanagan se. 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.

6

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. Diabetes. 2007 Jul;56(7):1930-7. doi: 10.2337/db07-0043. Epub 2007 Apr 19. Diabetes. 2007. PMID: 17446535 Free PMC article.

7

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S. Flanagan SE, et al. Hum Mutat. 2009 Feb;30(2):170-80. doi: 10.1002/humu.20838. Hum Mutat. 2009. PMID: 18767144 Review.

8

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Colclough K, et al. Among authors: flanagan se. Hum Mutat. 2013 May;34(5):669-85. doi: 10.1002/humu.22279. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23348805

9

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JA, Shepherd M, Hattersley AT, Weedon MN, Caswell R. Ellard S, et al. Among authors: flanagan se. Diabetologia. 2013 Sep;56(9):1958-63. doi: 10.1007/s00125-013-2962-5. Epub 2013 Jun 15. Diabetologia. 2013. PMID: 23771172 Free PMC article.

10

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium; Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium. Raimondo A, et al. Among authors: flanagan se. Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11. Hum Mol Genet. 2014. PMID: 25015100 Free PMC article.

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