Ellard S - Search Results

1

Update of variants identified in the pancreatic β-cell K_ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Among authors: ellard s. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.

2

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY).

Ellard S, Bulman MP, Frayling TM, Shepherd M, Hattersley AT. Ellard S, et al. Hum Mutat. 2000 Sep;16(3):273. doi: 10.1002/1098-1004(200009)16:3<273::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10980542

3

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

Ellard S. Ellard S. Hum Mutat. 2000 Nov;16(5):377-85. doi: 10.1002/1098-1004(200011)16:5<377::AID-HUMU1>3.0.CO;2-2. Hum Mutat. 2000. PMID: 11058894 Review.

4

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: ellard s. Hum Mutat. 2003 Nov;22(5):417. doi: 10.1002/humu.9186. Hum Mutat. 2003. PMID: 14517956

5

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. Gloyn AL, et al. Among authors: ellard s. N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922. N Engl J Med. 2004. PMID: 15115830 Free article.

6

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. Among authors: ellard s. Diabetes. 2004 Nov;53(11):2998-3001. doi: 10.2337/diabetes.53.11.2998. Diabetes. 2004. PMID: 15504982

7

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: ellard s. 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

8

High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation.

Codner E, Flanagan S, Ellard S, García H, Hattersley AT. Codner E, et al. Among authors: ellard s. Diabetes Care. 2005 Mar;28(3):758-9. doi: 10.2337/diacare.28.3.758. Diabetes Care. 2005. PMID: 15735229 No abstract available.

9

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.

Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S. Harries LW, et al. Among authors: ellard s. Hum Genet. 2005 Nov;118(2):214-24. doi: 10.1007/s00439-005-0023-y. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16133182 Clinical Trial.

10

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL, Siddiqui J, Ellard S. Gloyn AL, et al. Among authors: ellard s. Hum Mutat. 2006 Mar;27(3):220-31. doi: 10.1002/humu.20292. Hum Mutat. 2006. PMID: 16416420 Review.

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