Mackay DJG - Search Results

1

A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

Alhendi ASN, Gazdagh G, Lim D, McMullan D, Wright M, Temple IK, Davies JH, Mackay DJG. Alhendi ASN, et al. Among authors: mackay djg. Am J Med Genet A. 2024 Feb;194(2):383-388. doi: 10.1002/ajmg.a.63448. Epub 2023 Oct 18. Am J Med Genet A. 2024. PMID: 37850521

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. 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. Diabetes. 2000 Aug;49(8):1359-66. doi: 10.2337/diabetes.49.8.1359. Diabetes. 2000. PMID: 10923638

4

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

5

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. 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.

6

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

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. 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

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.

Kant SG, van der Weij AM, Oostdijk W, Wit JM, Robinson DO, Temple IK, Mackay DJ. Kant SG, et al. Hum Genet. 2005 Aug;117(4):398-401. doi: 10.1007/s00439-005-1304-1. Epub 2005 May 28. Hum Genet. 2005. PMID: 15924231

9

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.

Mackay DJ, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston VJ, Thomas NS, Robinson DO, Shield JP, Clayton-Smith J, Temple IK. Mackay DJ, et al. Hum Genet. 2006 Mar;119(1-2):179-84. doi: 10.1007/s00439-005-0127-4. Epub 2006 Jan 5. Hum Genet. 2006. PMID: 16402210

10

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.

Mackay DJ, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JM, Kant SG, Njølstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK. Mackay DJ, et al. Hum Genet. 2006 Sep;120(2):262-9. doi: 10.1007/s00439-006-0205-2. Epub 2006 Jul 1. Hum Genet. 2006. PMID: 16816970

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