Robinson DO - Search Results

1

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. Among authors: robinson do. Hum Genet. 2002 Feb;110(2):139-44. doi: 10.1007/s00439-001-0671-5. Epub 2002 Jan 24. Hum Genet. 2002. PMID: 11935319

2

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. Among authors: robinson do. Hum Genet. 2005 Mar;116(4):255-61. doi: 10.1007/s00439-004-1236-1. Epub 2005 Jan 6. Hum Genet. 2005. PMID: 15635480

3

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Mackay DJ, et al. Among authors: robinson do. Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11. Nat Genet. 2008. PMID: 18622393

4

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.

Temple IK, Gardner RJ, Robinson DO, Kibirige MS, Ferguson AW, Baum JD, Barber JC, James RS, Shield JP. Temple IK, et al. Among authors: robinson do. Hum Mol Genet. 1996 Aug;5(8):1117-21. doi: 10.1093/hmg/5.8.1117. Hum Mol Genet. 1996. PMID: 8842729

5

A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis.

Robinson DO, Bunyan DJ, Gabb HA, Temple IK, Yau SC. Robinson DO, et al. Hum Genet. 1997 May;99(5):658-62. doi: 10.1007/s004390050424. Hum Genet. 1997. PMID: 9150736

6

Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus.

Gardner RJ, Robinson DO, Lamont L, Shield JP, Temple IK. Gardner RJ, et al. Among authors: robinson do. Clin Genet. 1998 Dec;54(6):522-5. doi: 10.1111/j.1399-0004.1998.tb03774.x. Clin Genet. 1998. PMID: 9894800

7

Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.

Gardner RJ, Mungall AJ, Dunham I, Barber JC, Shield JP, Temple IK, Robinson DO. Gardner RJ, et al. Among authors: robinson do. J Med Genet. 1999 Mar;36(3):192-6. J Med Genet. 1999. PMID: 10204843 Free PMC article.

8

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: robinson do. Hum Mol Genet. 2000 Mar 1;9(4):589-96. doi: 10.1093/hmg/9.4.589. Hum Mol Genet. 2000. PMID: 10699182

9

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

10

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: robinson do. Hum Genet. 2005 Aug;117(4):398-401. doi: 10.1007/s00439-005-1304-1. Epub 2005 May 28. Hum Genet. 2005. PMID: 15924231

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