Mackay DJ - Search Results

1

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.

Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. Grønskov K, et al. Among authors: mackay dj. J Med Genet. 2011 May;48(5):308-11. doi: 10.1136/jmg.2010.086504. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278389

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

Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6.

Valerio G, Franzese A, Palmieri A, Mackay DJ, Gardner RJ, Temple IK. Valerio G, et al. Among authors: mackay dj. J Pediatr Endocrinol Metab. 2001 Jul-Aug;14(7):897-900. doi: 10.1515/jpem.2001.14.7.897. J Pediatr Endocrinol Metab. 2001. PMID: 11515731

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

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. 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

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. Among authors: mackay dj. 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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