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127 results

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Page 1
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.
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
Loh ML, Sakai DS, Flotho C, Kang M, Fliegauf M, Archambeault S, Mullighan CG, Chen L, Bergstraesser E, Bueso-Ramos CE, Emanuel PD, Hasle H, Issa JP, van den Heuvel-Eibrink MM, Locatelli F, Stary J, Trebo M, Wlodarski M, Zecca M, Shannon KM, Niemeyer CM. Loh ML, et al. Blood. 2009 Aug 27;114(9):1859-63. doi: 10.1182/blood-2009-01-198416. Epub 2009 Jul 1. Blood. 2009. PMID: 19571318 Free PMC article.
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.
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. Wlodarski MW, et al. Blood. 2016 Mar 17;127(11):1387-97; quiz 1518. doi: 10.1182/blood-2015-09-669937. Epub 2015 Dec 23. Blood. 2016. PMID: 26702063 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.
Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.
Nováková M, Žaliová M, Suková M, Wlodarski M, Janda A, Froňková E, Campr V, Lejhancová K, Zapletal O, Pospíšilová D, Černá Z, Kuhn T, Švec P, Pelková V, Zemanová Z, Kerndrup G, van den Heuvel-Eibrink M, van der Velden V, Niemeyer C, Kalina T, Trka J, Starý J, Hrušák O, Mejstříková E. Nováková M, et al. Haematologica. 2016 Jun;101(6):707-16. doi: 10.3324/haematol.2015.137711. Epub 2016 Mar 24. Haematologica. 2016. PMID: 27013649 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.
127 results