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126 results

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Page 1
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Schwarz M, Bittenbring J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Brümmendorf TH, Beier F. Kirschner M, et al. Among authors: wlodarski mw. Leukemia. 2018 Aug;32(8):1762-1767. doi: 10.1038/s41375-018-0125-x. Epub 2018 Apr 2. Leukemia. 2018. PMID: 29749397 Free article.
ERCC6L2 syndrome: attack of the TP53 clones.
Wlodarski MW. Wlodarski MW. Blood. 2023 Jun 8;141(23):2788-2789. doi: 10.1182/blood.2023020394. Blood. 2023. PMID: 37289478 Free article. No abstract available.
Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML.
Hirabayashi S, Flotho C, Moetter J, Heuser M, Hasle H, Gruhn B, Klingebiel T, Thol F, Schlegelberger B, Baumann I, Strahm B, Stary J, Locatelli F, Zecca M, Bergstraesser E, Dworzak M, van den Heuvel-Eibrink MM, De Moerloose B, Ogawa S, Niemeyer CM, Wlodarski MW; European Working Group of MDS in Childhood. Hirabayashi S, et al. Among authors: wlodarski mw. Blood. 2012 Mar 15;119(11):e96-9. doi: 10.1182/blood-2011-12-395087. Epub 2012 Jan 11. Blood. 2012. PMID: 22238327 Free article.
Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.
Thol F, Kade S, Schlarmann C, Löffeld P, Morgan M, Krauter J, Wlodarski MW, Kölking B, Wichmann M, Görlich K, Göhring G, Bug G, Ottmann O, Niemeyer CM, Hofmann WK, Schlegelberger B, Ganser A, Heuser M. Thol F, et al. Among authors: wlodarski mw. Blood. 2012 Apr 12;119(15):3578-84. doi: 10.1182/blood-2011-12-399337. Epub 2012 Mar 2. Blood. 2012. PMID: 22389253 Free article.
DNA methylation in PRDM8 is indicative for dyskeratosis congenita.
Weidner CI, Lin Q, Birkhofer C, Gerstenmaier U, Kaifie A, Kirschner M, Bruns H, Balabanov S, Trummer A, Stockklausner C, Höchsmann B, Schrezenmeier H, Wlodarski M, Panse J, Brümmendorf TH, Beier F, Wagner W. Weidner CI, et al. Oncotarget. 2016 Mar 8;7(10):10765-72. doi: 10.18632/oncotarget.7458. Oncotarget. 2016. PMID: 26909595 Free PMC article.
Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants.
Pastor V, Hirabayashi S, Karow A, Wehrle J, Kozyra EJ, Nienhold R, Ruzaike G, Lebrecht D, Yoshimi A, Niewisch M, Ripperger T, Göhring G, Baumann I, Schwarz S, Strahm B, Flotho C, Skoda RC, Niemeyer CM, Wlodarski MW. Pastor V, et al. Among authors: wlodarski mw. Leukemia. 2017 Mar;31(3):759-762. doi: 10.1038/leu.2016.342. Epub 2016 Nov 23. Leukemia. 2017. PMID: 27876779 No abstract available.
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.
Schwartz JR, Wang S, Ma J, Lamprecht T, Walsh M, Song G, Raimondi SC, Wu G, Walsh MF, McGee RB, Kesserwan C, Nichols KE, Cauff BE, Ribeiro RC, Wlodarski M, Klco JM. Schwartz JR, et al. Leukemia. 2017 Aug;31(8):1827-1830. doi: 10.1038/leu.2017.142. Epub 2017 May 10. Leukemia. 2017. PMID: 28487541 Free PMC article. No abstract available.
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.
Al Seraihi AF, Rio-Machin A, Tawana K, Bödör C, Wang J, Nagano A, Heward JA, Iqbal S, Best S, Lea N, McLornan D, Kozyra EJ, Wlodarski MW, Niemeyer CM, Scott H, Hahn C, Ellison A, Tummala H, Cardoso SR, Vulliamy T, Dokal I, Butler T, Smith M, Cavenagh J, Fitzgibbon J. Al Seraihi AF, et al. Among authors: wlodarski mw. Leukemia. 2018 Nov;32(11):2502-2507. doi: 10.1038/s41375-018-0134-9. Epub 2018 Apr 19. Leukemia. 2018. PMID: 29749400 Free PMC article. No abstract available.
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ, Pastor VB, Lefkopoulos S, Sahoo SS, Busch H, Voss RK, Erlacher M, Lebrecht D, Szvetnik EA, Hirabayashi S, Pasaulienė R, Pedace L, Tartaglia M, Klemann C, Metzger P, Boerries M, Catala A, Hasle H, de Haas V, Kállay K, Masetti R, De Moerloose B, Dworzak M, Schmugge M, Smith O, Starý J, Mejstrikova E, Ussowicz M, Morris E, Singh P, Collin M, Derecka M, Göhring G, Flotho C, Strahm B, Locatelli F, Niemeyer CM, Trompouki E, Wlodarski MW; European Working Group of MDS in Childhood (EWOG-MDS). Kozyra EJ, et al. Among authors: wlodarski mw. Leukemia. 2020 Oct;34(10):2673-2687. doi: 10.1038/s41375-020-0899-5. Epub 2020 Jun 18. Leukemia. 2020. PMID: 32555368 Free PMC article.
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Sharma R, et al. Among authors: wlodarski mw. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980. Blood. 2022. PMID: 34767620 Free PMC article.
126 results