Durston VJ - Search Results

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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. Among authors: durston vj. 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

Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.

White HE, Durston VJ, Harvey JF, Cross NC. White HE, et al. Among authors: durston vj. Clin Chem. 2006 Jun;52(6):1005-13. doi: 10.1373/clinchem.2005.065086. Epub 2006 Mar 30. Clin Chem. 2006. PMID: 16574761

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

White HE, Durston VJ, Seller A, Fratter C, Harvey JF, Cross NC. White HE, et al. Among authors: durston vj. Genet Test. 2005 Fall;9(3):190-9. doi: 10.1089/gte.2005.9.190. Genet Test. 2005. PMID: 16225398

A germ line mutation in the death domain of DAPK-1 inactivates ERK-induced apoptosis.

Stevens C, Lin Y, Sanchez M, Amin E, Copson E, White H, Durston V, Eccles DM, Hupp T. Stevens C, et al. J Biol Chem. 2007 May 4;282(18):13791-803. doi: 10.1074/jbc.M605649200. Epub 2007 Jan 23. J Biol Chem. 2007. PMID: 17244621 Free article.

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