Mackay DJ - Search Results

1

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: mackay dj. 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.

2

An imprinted locus associated with transient neonatal diabetes mellitus.

Gardner RJ, Mackay DJ, Mungall AJ, Polychronakos C, Siebert R, Shield JP, Temple IK, Robinson DO. Gardner RJ, et al. Among authors: mackay dj. Hum Mol Genet. 2000 Mar 1;9(4):589-96. doi: 10.1093/hmg/9.4.589. Hum Mol Genet. 2000. PMID: 10699182

3

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Temple IK, et al. Among authors: mackay dj. Diabetes. 2000 Aug;49(8):1359-66. doi: 10.2337/diabetes.49.8.1359. Diabetes. 2000. PMID: 10923638

4

Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus.

Shield J, Owen K, Robinson DO, Mackay D, Ellard S, Hattersley A, Temple IK. Shield J, et al. Diabetologia. 2001 Jul;44(7):924. doi: 10.1007/s001250100557. Diabetologia. 2001. PMID: 11508282 No abstract available.

5

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.

Mackay DJ, Coupe AM, Shield JP, Storr JN, Temple IK, Robinson DO. Mackay DJ, et al. Hum Genet. 2002 Feb;110(2):139-44. doi: 10.1007/s00439-001-0671-5. Epub 2002 Jan 24. Hum Genet. 2002. PMID: 11935319

6

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

Gloyn AL, Ellard S, Shield JP, Temple IK, Mackay DJ, Polak M, Barrett T, Hattersley AT. Gloyn AL, et al. Among authors: mackay dj. Diabetologia. 2002 Feb;45(2):290. doi: 10.1007/s00125-001-0746-9. Diabetologia. 2002. PMID: 11942315 No abstract available.

7

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. N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922. N Engl J Med. 2004. PMID: 15115830 Free article.

8

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission.

Shield JP, Temple IK, Sabin M, Mackay D, Robinson DO, Betts PR, Carson DJ, Cavé H, Chevenne D, Polak M. Shield JP, et al. Among authors: mackay d. Arch Dis Child Fetal Neonatal Ed. 2004 Jul;89(4):F341-3. doi: 10.1136/adc.2003.030502. Arch Dis Child Fetal Neonatal Ed. 2004. PMID: 15210671 Free PMC article.

9

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

Mackay DJ, Temple IK, Shield JP, Robinson DO. Mackay DJ, et al. Hum Genet. 2005 Mar;116(4):255-61. doi: 10.1007/s00439-004-1236-1. Epub 2005 Jan 6. Hum Genet. 2005. PMID: 15635480

10

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: mackay dj. 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

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