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Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, Godfrey AL, Guglielmelli P, Callaway A, Ward D, Aranaz P, White HE, Waghorn K, Lin F, Chase A, Baxter EJ, Maclean C, Nangalia J, Chen E, Evans P, Short M, Jack A, Wallis L, Oscier D, Duncombe AS, Schuh A, Mead AJ, Griffiths M, Ewing J, Gale RE, Schnittger S, Haferlach T, Stegelmann F, Döhner K, Grallert H, Strauch K, Tanaka T, Bandinelli S, Giannopoulos A, Pieri L, Mannarelli C, Gisslinger H, Barosi G, Cazzola M, Reiter A, Harrison C, Campbell P, Green AR, Vannucchi A, Cross NC. Tapper W, et al. Among authors: schnittger s. Nat Commun. 2015 Apr 7;6:6691. doi: 10.1038/ncomms7691. Nat Commun. 2015. PMID: 25849990 Free PMC article.
The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.
Jones AV, Campbell PJ, Beer PA, Schnittger S, Vannucchi AM, Zoi K, Percy MJ, McMullin MF, Scott LM, Tapper W, Silver RT, Oscier D, Harrison CN, Grallert H, Kisialiou A, Strike P, Chase AJ, Green AR, Cross NC. Jones AV, et al. Among authors: schnittger s. Blood. 2010 Jun 3;115(22):4517-23. doi: 10.1182/blood-2009-08-236448. Epub 2010 Mar 19. Blood. 2010. PMID: 20304805 Free PMC article. Clinical Trial.
Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations.
Passamonti F, Elena C, Schnittger S, Skoda RC, Green AR, Girodon F, Kiladjian JJ, McMullin MF, Ruggeri M, Besses C, Vannucchi AM, Lippert E, Gisslinger H, Rumi E, Lehmann T, Ortmann CA, Pietra D, Pascutto C, Haferlach T, Cazzola M. Passamonti F, et al. Among authors: schnittger s. Blood. 2011 Mar 10;117(10):2813-6. doi: 10.1182/blood-2010-11-316810. Epub 2011 Jan 11. Blood. 2011. PMID: 21224469 Free article.
Absence of SCL mutations in myeloid malignancies.
Delabesse E, Li J, Schnittger S, Hiddemann W, Green AR. Delabesse E, et al. Among authors: schnittger s. Br J Haematol. 2003 Feb;120(3):482-3. doi: 10.1046/j.1365-2141.2003.04122.x. Br J Haematol. 2003. PMID: 12580964 Free article.
Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.
Schnittger S, Bacher U, Alpermann T, Reiter A, Ulke M, Dicker F, Eder C, Kohlmann A, Grossmann V, Kowarsch A, Kern W, Haferlach C, Haferlach T. Schnittger S, et al. Haematologica. 2012 Dec;97(12):1890-4. doi: 10.3324/haematol.2012.065375. Epub 2012 Jun 24. Haematologica. 2012. PMID: 22733026 Free PMC article.
Activating CBL mutations are associated with a distinct MDS/MPN phenotype.
Schwaab J, Ernst T, Erben P, Rinke J, Schnittger S, Ströbel P, Metzgeroth G, Mossner M, Haferlach T, Cross NC, Hochhaus A, Hofmann WK, Reiter A. Schwaab J, et al. Among authors: schnittger s. Ann Hematol. 2012 Nov;91(11):1713-20. doi: 10.1007/s00277-012-1521-3. Epub 2012 Aug 10. Ann Hematol. 2012. PMID: 23010802
384 results