Clayton-Smith J - Search Results

1

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

2

Monozygotic twinning and Wiedemann-Beckwith syndrome.

Clayton-Smith J, Read AP, Donnai D. Clayton-Smith J, et al. Am J Med Genet. 1992 Feb 15;42(4):633-7. doi: 10.1002/ajmg.1320420440. Am J Med Genet. 1992. PMID: 1609846

3

Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).

Norman AM, Read AP, Clayton-Smith J, Andrews T, Donnai D. Norman AM, et al. Am J Med Genet. 1992 Feb 15;42(4):638-41. doi: 10.1002/ajmg.1320420441. Am J Med Genet. 1992. PMID: 1609847

4

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.

Brown KW, Villar AJ, Bickmore W, Clayton-Smith J, Catchpoole D, Maher ER, Reik W. Brown KW, et al. Hum Mol Genet. 1996 Dec;5(12):2027-32. doi: 10.1093/hmg/5.12.2027. Hum Mol Genet. 1996. PMID: 8968759

5

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.

Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, Wall SA, Wilkie AO. Elanko N, et al. Hum Mutat. 2001 Dec;18(6):535-41. doi: 10.1002/humu.1230. Hum Mutat. 2001. PMID: 11748846

6

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. Monk D, et al. Hum Genet. 2002 Oct;111(4-5):376-87. doi: 10.1007/s00439-002-0777-4. Epub 2002 Aug 16. Hum Genet. 2002. PMID: 12384779

7

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Aligianis IA, et al. Nat Genet. 2005 Mar;37(3):221-3. doi: 10.1038/ng1517. Nat Genet. 2005. PMID: 15696165

8

Assisted reproductive therapies and imprinting disorders--a preliminary British survey.

Sutcliffe AG, Peters CJ, Bowdin S, Temple K, Reardon W, Wilson L, Clayton-Smith J, Brueton LA, Bannister W, Maher ER. Sutcliffe AG, et al. Hum Reprod. 2006 Apr;21(4):1009-11. doi: 10.1093/humrep/dei405. Epub 2005 Dec 16. Hum Reprod. 2006. PMID: 16361294

9

Discriminating power of localized three-dimensional facial morphology.

Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M. Hammond P, et al. Am J Hum Genet. 2005 Dec;77(6):999-1010. doi: 10.1086/498396. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380911 Free PMC article.

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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