Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
BUNYAN, D. J, ECCLES, D. M, CROSS, N. C. P, SILLIBOURNE, J, WILKINS, E, THOMAS, N. Simon, SHEA-SIMONDS, J, DUNCAN, P. J, CURTIS, C. E, ROBINSON, D. O, HARVEY, J. F
Published in British journal of cancer (13.09.2004)
Published in British journal of cancer (13.09.2004)
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SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
Bakrania, P, Robinson, D O, Bunyan, D J, Salt, A, Martin, A, Crolla, J A, Wyatt, A, Fielder, A, Ainsworth, J, Moore, A, Read, S, Uddin, J, Laws, D, Pascuel-Salcedo, D, Ayuso, C, Allen, L, Collin, J R O, Ragge, N K
Published in British journal of ophthalmology (01.11.2007)
Published in British journal of ophthalmology (01.11.2007)
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Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes
TEMPLE, I. K, GARDNER, R. J, MACKAY, D. J. G, BARBER, J. C. K, ROBINSON, D. O, SHIELD, J. P. H
Published in Diabetes (New York, N.Y.) (01.08.2000)
Published in Diabetes (New York, N.Y.) (01.08.2000)
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Journal Article
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndrome
Bullman, H, Lever, M, Robinson, D O, Mackay, D J G, Holder, S E, Wakeling, E L
Published in Journal of medical genetics (01.06.2008)
Published in Journal of medical genetics (01.06.2008)
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Journal Article
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities
Robinson, DO, Lin, F, Lyon, M, Raponi, M, Cross, E, White, HE, Cox, H, Clayton-Smith, J, Baralle, D
Published in Clinical genetics (01.09.2012)
Published in Clinical genetics (01.09.2012)
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Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
MACKAY, D. J. G, HAHNEMANN, J. M. D, CLAYTON-SMITH, J, TEMPLE, I. K, BOONEN, S. E, POERKSEN, S, BUNYAN, D. J, WHITE, H. E, DURSTON, V. J, THOMAS, N. S, ROBINSON, D. O, SHIELD, J. P. H
Published in Human genetics (01.03.2006)
Published in Human genetics (01.03.2006)
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Does the patient history predict hepatotoxicity after acute paracetamol overdose?
Waring, W.S., Robinson, O.D.G., Stephen, A.F.L., Dow, M.A., Pettie, J.M.
Published in QJM : An International Journal of Medicine (01.02.2008)
Published in QJM : An International Journal of Medicine (01.02.2008)
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Oculopharyngeal muscular dystrophy : Phenotypic and genotypic studies in a UK population
HILL, M. E, CREED, G. A, MCMULLAN, T. F. W, TYERS, A. G, HILTON-JONES, D, ROBINSON, D. O, HAMMANS, S. R
Published in Brain (London, England : 1878) (01.03.2001)
Published in Brain (London, England : 1878) (01.03.2001)
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Journal Article
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
MACKAY, D. J. G, BOONEN, S. E, SHIELD, J. P. H, WHITE, H. E, TEMPLE, I. K, CLAYTON-SMITH, J, GOODSHIP, J, HAHNEMANN, J. M. D, KANT, S. G, NJOLSTAD, P. R, ROBIN, N. H, ROBINSON, D. O, SIEBERT, R
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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Journal Article
Serum urea concentration and the risk of hepatotoxicity after paracetamol overdose
Waring, W.S., Stephen, A.F.L., Robinson, O.D.G., Dow, M.A., Pettie, J.M.
Published in QJM : An International Journal of Medicine (01.05.2008)
Published in QJM : An International Journal of Medicine (01.05.2008)
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Journal Article
An imprinted locus associated with transient neonatal diabetes mellitus
GARDNER, R. J, MACKAY, D. J. G, MUNGALL, A. J, POLYCHRONAKOS, C, SIEBERT, R, SHIELD, J. P. H, TEMPLES, I. K, ROBINSON, D. O
Published in Human molecular genetics (01.03.2000)
Published in Human molecular genetics (01.03.2000)
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Journal Article
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
MACKAY, D. J. G, COUPE, A.-M, SHIELD, J. P. H, STORR, J. N. P, TEMPLE, I. K, ROBINSON, D. O
Published in Human genetics (01.02.2002)
Published in Human genetics (01.02.2002)
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Journal Article
Aetiopathology and genetic basis of neonatal diabetes
Shield, J P H, Gardner, R J, Wadsworth, E J K, Whiteford, M L, James, R S, Robinson, D O, Baum, J D, Temple, I K
Published in Archives of disease in childhood. Fetal and neonatal edition (01.01.1997)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.01.1997)
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Journal Article
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region
KANT, S. G, VAN DER WEIJ, A. M, OOSTDIJK, W, WIT, J. M, ROBINSON, D. O, TEMPLE, I. K, MACKAY, D. J. G
Published in Human genetics (01.08.2005)
Published in Human genetics (01.08.2005)
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Journal Article
A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome
Robinson, D O, Dalton, P, Jacobs, P A, Mosse, K, Power, M M, Skuse, D H, Crolla, J A
Published in Journal of medical genetics (01.04.1999)
Published in Journal of medical genetics (01.04.1999)
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Journal Article
An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission
Shield, J P H, Temple, I K, Sabin, M, Mackay, D, Robinson, D O, Betts, P R, Carson, D J, Cavé, H, Chevenne, D, Polak, M
Published in Archives of disease in childhood. Fetal and neonatal edition (01.07.2004)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.07.2004)
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