Mackay D - Search Results

1

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans.

Sanchez-Delgado M, Riccio A, Eggermann T, Maher ER, Lapunzina P, Mackay D, Monk D. Sanchez-Delgado M, et al. Among authors: mackay d. Trends Genet. 2016 Jul;32(7):444-455. doi: 10.1016/j.tig.2016.05.001. Epub 2016 May 24. Trends Genet. 2016. PMID: 27235113 Review.

2

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

3

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ. Temple IK, et al. Among authors: mackay dj. J Med Genet. 2007 Oct;44(10):637-40. doi: 10.1136/jmg.2007.050807. Epub 2007 Jun 29. J Med Genet. 2007. PMID: 17601927 Free PMC article.

4

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Bliek J, et al. Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092779 Free PMC article.

5

Epigenotype-phenotype correlations in Silver-Russell syndrome.

Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM. Wakeling EL, et al. Among authors: mackay dj. J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685669 Free PMC article.

6

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ. Poole RL, et al. Eur J Hum Genet. 2012 Feb;20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863054 Free PMC article.

7

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R. Eggermann T, et al. Among authors: mackay d. Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.132. Epub 2013 Jul 3. Eur J Hum Genet. 2014. PMID: 23820480 Free PMC article. No abstract available.

8

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ; International Clinical Imprinting Consortium. Poole RL, et al. Am J Med Genet A. 2013 Sep;161A(9):2174-82. doi: 10.1002/ajmg.a.36049. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913548

9

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.

Docherty LE, Rezwan FI, Poole RL, Jagoe H, Lake H, Lockett GA, Arshad H, Wilson DI, Holloway JW, Temple IK, Mackay DJ. Docherty LE, et al. J Med Genet. 2014 Apr;51(4):229-38. doi: 10.1136/jmedgenet-2013-102116. Epub 2014 Feb 5. J Med Genet. 2014. PMID: 24501229 Free PMC article.

10

Multilocus methylation defects in imprinting disorders.

Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP. Mackay DJ, et al. Biomol Concepts. 2015 Mar;6(1):47-57. doi: 10.1515/bmc-2014-0037. Biomol Concepts. 2015. PMID: 25581766 Free article. Review.

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