White HE - Search Results

1

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.

Chase A, Leung W, Tapper W, Jones AV, Knoops L, Rasi C, Forsberg LA, Guglielmelli P, Zoi K, Hall V, Chiecchio L, Eder-Azanza L, Bryant C, Lannfelt L, Docherty L, White HE, Score J, Mackay DJ, Vannucchi AM, Dumanski JP, Cross NC. Chase A, et al. Among authors: white he. Leukemia. 2015 Oct;29(10):2069-74. doi: 10.1038/leu.2015.130. Epub 2015 May 20. Leukemia. 2015. PMID: 26114957 Free PMC article.

2

Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.

Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase AJ, Grand FH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou EC, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, Hochhaus A, Oscier D, Silver RT, Reiter A, Cross NC. Jones AV, et al. Blood. 2005 Sep 15;106(6):2162-8. doi: 10.1182/blood-2005-03-1320. Epub 2005 May 26. Blood. 2005. PMID: 15920007 Free article.

3

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. Genet Test. 2005 Fall;9(3):190-9. doi: 10.1089/gte.2005.9.190. Genet Test. 2005. PMID: 16225398

4

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: white he. 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

5

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. Clin Chem. 2006 Jun;52(6):1005-13. doi: 10.1373/clinchem.2005.065086. Epub 2006 Mar 30. Clin Chem. 2006. PMID: 16574761

6

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. Among authors: white he. Hum Genet. 2006 Sep;120(2):262-9. doi: 10.1007/s00439-006-0205-2. Epub 2006 Jul 1. Hum Genet. 2006. PMID: 16816970

7

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.

White HE, Hall VJ, Cross NC. White HE, et al. Clin Chem. 2007 Nov;53(11):1960-2. doi: 10.1373/clinchem.2007.093351. Epub 2007 Sep 21. Clin Chem. 2007. PMID: 17890436

8

The severity of FIP1L1-PDGFRA-positive chronic eosinophilic leukaemia is associated with polymorphic variation at the IL5RA locus.

Burgstaller S, Kreil S, Waghorn K, Metzgeroth G, Preudhomme C, Zoi K, White H, Cilloni D, Zoi C, Brito-Babapulle F, Walz C, Reiter A, Cross NC. Burgstaller S, et al. Leukemia. 2007 Dec;21(12):2428-32. doi: 10.1038/sj.leu.2404977. Epub 2007 Oct 4. Leukemia. 2007. PMID: 17914408

9

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: white he. Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11. Nat Genet. 2008. PMID: 18622393

10

Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis.

Jones AV, Cross NC, White HE, Green AR, Scott LM. Jones AV, et al. Among authors: white he. Haematologica. 2008 Oct;93(10):1560-4. doi: 10.3324/haematol.12883. Epub 2008 Aug 12. Haematologica. 2008. PMID: 18698085 Free article.

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