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JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone.
Godfrey AL, Chen E, Pagano F, Ortmann CA, Silber Y, Bellosillo B, Guglielmelli P, Harrison CN, Reilly JT, Stegelmann F, Bijou F, Lippert E, McMullin MF, Boiron JM, Döhner K, Vannucchi AM, Besses C, Campbell PJ, Green AR. Godfrey AL, et al. Among authors: silber y. Blood. 2012 Sep 27;120(13):2704-7. doi: 10.1182/blood-2012-05-431791. Epub 2012 Aug 16. Blood. 2012. PMID: 22898600 Free PMC article.
JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease.
Li J, Kent DG, Godfrey AL, Manning H, Nangalia J, Aziz A, Chen E, Saeb-Parsy K, Fink J, Sneade R, Hamilton TL, Pask DC, Silber Y, Zhao X, Ghevaert C, Liu P, Green AR. Li J, et al. Among authors: silber y. Blood. 2014 May 15;123(20):3139-51. doi: 10.1182/blood-2013-06-510222. Epub 2014 Apr 1. Blood. 2014. PMID: 24692758 Free article.
Effect of mutation order on myeloproliferative neoplasms.
Ortmann CA, Kent DG, Nangalia J, Silber Y, Wedge DC, Grinfeld J, Baxter EJ, Massie CE, Papaemmanuil E, Menon S, Godfrey AL, Dimitropoulou D, Guglielmelli P, Bellosillo B, Besses C, Döhner K, Harrison CN, Vassiliou GS, Vannucchi A, Campbell PJ, Green AR. Ortmann CA, et al. Among authors: silber y. N Engl J Med. 2015 Feb 12;372(7):601-612. doi: 10.1056/NEJMoa1412098. N Engl J Med. 2015. PMID: 25671252 Free PMC article.
STAT1 activation in association with JAK2 exon 12 mutations.
Godfrey AL, Chen E, Massie CE, Silber Y, Pagano F, Bellosillo B, Guglielmelli P, Harrison CN, Reilly JT, Stegelmann F, Bijou F, Lippert E, Boiron JM, Döhner K, Vannucchi AM, Besses C, Green AR. Godfrey AL, et al. Among authors: silber y. Haematologica. 2016 Jan;101(1):e15-9. doi: 10.3324/haematol.2015.128546. Epub 2015 Dec 3. Haematologica. 2016. PMID: 26635038 Free PMC article. No abstract available.
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.
Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG, Aziz A, Godfrey AL, Hinton J, Martincorena I, Van Loo P, Jones AV, Guglielmelli P, Tarpey P, Harding HP, Fitzpatrick JD, Goudie CT, Ortmann CA, Loughran SJ, Raine K, Jones DR, Butler AP, Teague JW, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du MQ, Greaves M, Bowen D, Huntly BJP, Harrison CN, Cross NCP, Ron D, Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR. Nangalia J, et al. Among authors: silber y. N Engl J Med. 2013 Dec 19;369(25):2391-2405. doi: 10.1056/NEJMoa1312542. Epub 2013 Dec 10. N Engl J Med. 2013. PMID: 24325359 Free PMC article.
Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions.
Aziz A, Baxter EJ, Edwards C, Cheong CY, Ito M, Bench A, Kelley R, Silber Y, Beer PA, Chng K, Renfree MB, McEwen K, Gray D, Nangalia J, Mufti GJ, Hellstrom-Lindberg E, Kiladjian JJ, McMullin MF, Campbell PJ, Ferguson-Smith AC, Green AR. Aziz A, et al. Among authors: silber y. J Clin Invest. 2013 May;123(5):2169-82. doi: 10.1172/JCI66113. Epub 2013 Apr 1. J Clin Invest. 2013. PMID: 23543057 Free PMC article.
15 results