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Items: 1 to 20 of 29

1.

Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis.

Flach J, Dicker F, Schnittger S, Kohlmann A, Haferlach T, Haferlach C.

Haematologica. 2010 Mar;95(3):518-9. doi: 10.3324/haematol.2009.013631. Epub 2009 Nov 10. No abstract available.

2.

Mutations of ASXL1 gene in myeloproliferative neoplasms.

Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adélaïde J, Rey J, Vainchenker W, Bernard OA, Chaffanet M, Vey N, Birnbaum D, Mozziconacci MJ.

Leukemia. 2009 Nov;23(11):2183-6. doi: 10.1038/leu.2009.141. Epub 2009 Jul 16. No abstract available.

PMID:
19609284
3.

Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome.

Mohamedali AM, Smith AE, Gaken J, Lea NC, Mian SA, Westwood NB, Strupp C, Gattermann N, Germing U, Mufti GJ.

J Clin Oncol. 2009 Aug 20;27(24):4002-6. doi: 10.1200/JCO.2009.22.6985. Epub 2009 Jun 15.

PMID:
19528370
4.

Acquired mutations in TET2 are common in myelodysplastic syndromes.

Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M, Stevens-Linders E, van Hoogen P, van Kessel AG, Raymakers RA, Kamping EJ, Verhoef GE, Verburgh E, Hagemeijer A, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH.

Nat Genet. 2009 Jul;41(7):838-42. doi: 10.1038/ng.391. Epub 2009 May 31.

PMID:
19483684
5.

Mutation in TET2 in myeloid cancers.

Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Massé A, Kosmider O, Le Couedic JP, Robert F, Alberdi A, Lécluse Y, Plo I, Dreyfus FJ, Marzac C, Casadevall N, Lacombe C, Romana SP, Dessen P, Soulier J, Viguié F, Fontenay M, Vainchenker W, Bernard OA.

N Engl J Med. 2009 May 28;360(22):2289-301. doi: 10.1056/NEJMoa0810069.

6.

Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.

Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, Patel J, Wadleigh M, Malinge S, Yao J, Kilpivaara O, Bhat R, Huberman K, Thomas S, Dolgalev I, Heguy A, Paietta E, Le Beau MM, Beran M, Tallman MS, Ebert BL, Kantarjian HM, Stone RM, Gilliland DG, Crispino JD, Levine RL.

Blood. 2009 Jul 2;114(1):144-7. doi: 10.1182/blood-2009-03-210039. Epub 2009 May 6.

7.

Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.

Gelsi-Boyer V, Trouplin V, Adélaïde J, Bonansea J, Cervera N, Carbuccia N, Lagarde A, Prebet T, Nezri M, Sainty D, Olschwang S, Xerri L, Chaffanet M, Mozziconacci MJ, Vey N, Birnbaum D.

Br J Haematol. 2009 Jun;145(6):788-800. doi: 10.1111/j.1365-2141.2009.07697.x. Epub 2009 Apr 15.

PMID:
19388938
8.

Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1.

Tahiliani M, Koh KP, Shen Y, Pastor WA, Bandukwala H, Brudno Y, Agarwal S, Iyer LM, Liu DR, Aravind L, Rao A.

Science. 2009 May 15;324(5929):930-5. doi: 10.1126/science.1170116. Epub 2009 Apr 16.

9.

Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.

Jankowska AM, Szpurka H, Tiu RV, Makishima H, Afable M, Huh J, O'Keefe CL, Ganetzky R, McDevitt MA, Maciejewski JP.

Blood. 2009 Jun 18;113(25):6403-10. doi: 10.1182/blood-2009-02-205690. Epub 2009 Apr 16.

10.

Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML.

Tefferi A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Patnaik MM, Hanson CA, Pardanani A, Gilliland DG, Levine RL.

Leukemia. 2009 Jul;23(7):1343-5. doi: 10.1038/leu.2009.59. Epub 2009 Mar 19. No abstract available.

11.

TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis.

Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Gangat N, Finke CM, Schwager S, Mullally A, Li CY, Hanson CA, Mesa R, Bernard O, Delhommeau F, Vainchenker W, Gilliland DG, Levine RL.

Leukemia. 2009 May;23(5):905-11. doi: 10.1038/leu.2009.47. Epub 2009 Mar 5.

12.

UPD1p indicates the presence of MPL W515L mutation in RARS-T, a mechanism analogous to UPD9p and JAK2 V617F mutation.

Szpurka H, Gondek LP, Mohan SR, Hsi ED, Theil KS, Maciejewski JP.

Leukemia. 2009 Mar;23(3):610-4. doi: 10.1038/leu.2008.249. Epub 2008 Sep 25. No abstract available.

PMID:
18818701
13.

Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia.

Vannucchi AM, Antonioli E, Guglielmelli P, Pancrazzi A, Guerini V, Barosi G, Ruggeri M, Specchia G, Lo-Coco F, Delaini F, Villani L, Finotto S, Ammatuna E, Alterini R, Carrai V, Capaccioli G, Di Lollo S, Liso V, Rambaldi A, Bosi A, Barbui T.

Blood. 2008 Aug 1;112(3):844-7. doi: 10.1182/blood-2008-01-135897. Epub 2008 Jun 2.

14.

Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal.

Vannucchi AM, Antonioli E, Guglielmelli P, Pardanani A, Tefferi A.

Leukemia. 2008 Jul;22(7):1299-307. doi: 10.1038/leu.2008.113. Epub 2008 May 22. Review.

PMID:
18496562
15.

JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Schmitt-Graeff AH, Teo SS, Olschewski M, Schaub F, Haxelmans S, Kirn A, Reinecke P, Germing U, Skoda RC.

Haematologica. 2008 Jan;93(1):34-40. doi: 10.3324/haematol.11581.

16.

MPL 515 and JAK2 mutation analysis in MDS presenting with a platelet count of more than 500 x 10(9)/l.

Zipperer E, Wulfert M, Germing U, Haas R, Gattermann N.

Ann Hematol. 2008 May;87(5):413-5. Epub 2007 Nov 27. No abstract available.

PMID:
18040685
17.

SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD.

Gondek LP, Dunbar AJ, Szpurka H, McDevitt MA, Maciejewski JP.

PLoS One. 2007 Nov 21;2(11):e1225.

18.

High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count>600x109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable.

Gattermann N, Billiet J, Kronenwett R, Zipperer E, Germing U, Nollet F, Criel A, Selleslag D.

Blood. 2007 Feb 1;109(3):1334-5. No abstract available.

19.

High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Renneville A, Quesnel B, Charpentier A, Terriou L, Crinquette A, Laï JL, Cossement C, Lionne-Huyghe P, Rose C, Bauters F, Preudhomme C.

Leukemia. 2006 Nov;20(11):2067-70. Epub 2006 Sep 21. No abstract available.

PMID:
16990759
20.

The JAK2 V617F mutation is rare in RARS but common in RARS-T.

Ceesay MM, Lea NC, Ingram W, Westwood NB, Gäken J, Mohamedali A, Cervera J, Germing U, Gattermann N, Giagounidis A, Garcia-Casado Z, Sanz G, Mufti GJ.

Leukemia. 2006 Nov;20(11):2060-1. Epub 2006 Aug 24. No abstract available.

PMID:
16932338

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