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Items: 1 to 20 of 141

1.

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Pasquet M, Bellanné-Chantelot C, Tavitian S, Prade N, Beaupain B, Larochelle O, Petit A, Rohrlich P, Ferrand C, Van Den Neste E, Poirel HA, Lamy T, Ouachée-Chardin M, Mansat-De Mas V, Corre J, Récher C, Plat G, Bachelerie F, Donadieu J, Delabesse E.

Blood. 2013 Jan 31;121(5):822-9. doi: 10.1182/blood-2012-08-447367. Epub 2012 Dec 6.

2.

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL.

Blood. 2012 Feb 2;119(5):1283-91. doi: 10.1182/blood-2011-08-374363. Epub 2011 Dec 6.

3.

Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

Babushok DV, Bessler M.

Best Pract Res Clin Haematol. 2015 Mar;28(1):55-68. doi: 10.1016/j.beha.2014.11.004. Epub 2014 Nov 12. Review.

4.

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM.

Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13.

5.

Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy.

Freedman MH, Bonilla MA, Fier C, Bolyard AA, Scarlata D, Boxer LA, Brown S, Cham B, Kannourakis G, Kinsey SE, Mori PG, Cottle T, Welte K, Dale DC.

Blood. 2000 Jul 15;96(2):429-36.

6.

Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature.

Mallhi K, Dix DB, Niederhoffer KY, Armstrong L, Rozmus J.

Pediatr Transplant. 2016 Nov;20(7):1004-1007. doi: 10.1111/petr.12764. Epub 2016 Jul 15. Review.

PMID:
27416790
7.

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS.

Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913.

8.

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Gao J, Gentzler RD, Timms AE, Horwitz MS, Frankfurt O, Altman JK, Peterson LC.

J Hematol Oncol. 2014 Apr 22;7:36. doi: 10.1186/1756-8722-7-36. Review. Erratum in: J Hematol Oncol. 2015;8:131.

9.

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H, Hossain U, Kirwan M, Walne A, Vulliamy T, Dokal I.

Br J Haematol. 2012 Jul;158(2):242-8. doi: 10.1111/j.1365-2141.2012.09136.x. Epub 2012 Apr 26.

PMID:
22533337
10.

G-CSF and its receptor in myeloid malignancy.

Beekman R, Touw IP.

Blood. 2010 Jun 24;115(25):5131-6. doi: 10.1182/blood-2010-01-234120. Epub 2010 Mar 17. Review.

11.

Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia.

Kalra R, Dale D, Freedman M, Bonilla MA, Weinblatt M, Ganser A, Bowman P, Abish S, Priest J, Oseas RS, Olson K, Paderanga D, Shannon K.

Blood. 1995 Dec 15;86(12):4579-86.

12.

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

Churpek JE, Pyrtel K, Kanchi KL, Shao J, Koboldt D, Miller CA, Shen D, Fulton R, O'Laughlin M, Fronick C, Pusic I, Uy GL, Braunstein EM, Levis M, Ross J, Elliott K, Heath S, Jiang A, Westervelt P, DiPersio JF, Link DC, Walter MJ, Welch J, Wilson R, Ley TJ, Godley LA, Graubert TA.

Blood. 2015 Nov 26;126(22):2484-90. doi: 10.1182/blood-2015-04-641100. Epub 2015 Oct 22.

13.

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.

Bödör C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, Cavenagh J, Barnett MJ, Kramarzová K, Krishnan B, Matolcsy A, Preudhomme C, Fitzgibbon J, Owen C.

Haematologica. 2012 Jun;97(6):890-4. doi: 10.3324/haematol.2011.054361. Epub 2012 Jan 22.

14.

The evolution of cellular deficiency in GATA2 mutation.

Dickinson RE, Milne P, Jardine L, Zandi S, Swierczek SI, McGovern N, Cookson S, Ferozepurwalla Z, Langridge A, Pagan S, Gennery A, Heiskanen-Kosma T, Hämäläinen S, Seppänen M, Helbert M, Tholouli E, Gambineri E, Reykdal S, Gottfreðsson M, Thaventhiran JE, Morris E, Hirschfield G, Richter AG, Jolles S, Bacon CM, Hambleton S, Haniffa M, Bryceson Y, Allen C, Prchal JT, Dick JE, Bigley V, Collin M.

Blood. 2014 Feb 6;123(6):863-74. doi: 10.1182/blood-2013-07-517151. Epub 2013 Dec 17.

15.

Preferential occurrence of spliceosome mutations in acute myeloid leukemia with preceding myelodysplastic syndrome and/or myelodysplasia morphology.

Cho YU, Jang S, Seo EJ, Park CJ, Chi HS, Kim DY, Lee JH, Lee JH, Lee KH, Koh KN, Im HJ, Seo JJ, Park SH, Park YM, Lee JK.

Leuk Lymphoma. 2015;56(8):2301-8. doi: 10.3109/10428194.2014.995648. Epub 2015 Jan 21.

PMID:
25487075
16.

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Wlodarski MW, Hirabayashi S, Pastor V, Starý J, Hasle H, Masetti R, Dworzak M, Schmugge M, van den Heuvel-Eibrink M, Ussowicz M, De Moerloose B, Catala A, Smith OP, Sedlacek P, Lankester AC, Zecca M, Bordon V, Matthes-Martin S, Abrahamsson J, Kühl JS, Sykora KW, Albert MH, Przychodzien B, Maciejewski JP, Schwarz S, Göhring G, Schlegelberger B, Cseh A, Noellke P, Yoshimi A, Locatelli F, Baumann I, Strahm B, Niemeyer CM; EWOG-MDS.

Blood. 2016 Mar 17;127(11):1387-97; quiz 1518. doi: 10.1182/blood-2015-09-669937. Epub 2015 Dec 23.

17.

G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.

Beel K, Vandenberghe P.

Haematologica. 2009 Oct;94(10):1449-52. doi: 10.3324/haematol.2009.009001.

18.

[Clinical and genetic background of familial myelodysplasia and acute myeloid leukemia].

Király PA, Kállay K, Marosvári D, Benyó G, Szőke A, Csomor J, Bödör C.

Orv Hetil. 2016 Feb 21;157(8):283-9. doi: 10.1556/650.2016.30375. Review. Hungarian.

PMID:
26876264
19.

GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia.

Greif PA, Dufour A, Konstandin NP, Ksienzyk B, Zellmeier E, Tizazu B, Sturm J, Benthaus T, Herold T, Yaghmaie M, Dörge P, Hopfner KP, Hauser A, Graf A, Krebs S, Blum H, Kakadia PM, Schneider S, Hoster E, Schneider F, Stanulla M, Braess J, Sauerland MC, Berdel WE, Büchner T, Woermann BJ, Hiddemann W, Spiekermann K, Bohlander SK.

Blood. 2012 Jul 12;120(2):395-403. doi: 10.1182/blood-2012-01-403220. Epub 2012 May 30.

20.

Granulomatous lung disease in a patient with a family history of hematological disorders.

Overbeek MJ, van de Loosdrecht AA, Vonk-Noordegraaf A.

Sarcoidosis Vasc Diffuse Lung Dis. 2015 Jan 5;31(4):350-3.

PMID:
25591147

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