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Page 1
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW. Wlodarski MW, et al. Among authors: di summa fm. Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29. Haematologica. 2018. PMID: 29599205 Free PMC article.
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Paolini NA, Attwood M, Sondalle SB, Vieira CMDS, van Adrichem AM, di Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW. Paolini NA, et al. Among authors: di summa fm. Am J Hum Genet. 2017 Mar 2;100(3):506-522. doi: 10.1016/j.ajhg.2017.01.034. Am J Hum Genet. 2017. PMID: 28257692 Free PMC article.
MEIS1 regulates early erythroid and megakaryocytic cell fate.
Zeddies S, Jansen SB, di Summa F, Geerts D, Zwaginga JJ, van der Schoot CE, von Lindern M, Thijssen-Timmer DC. Zeddies S, et al. Haematologica. 2014 Oct;99(10):1555-64. doi: 10.3324/haematol.2014.106567. Epub 2014 Aug 8. Haematologica. 2014. PMID: 25107888 Free PMC article.
Evidence for at least eight Fanconi anemia genes.
Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans MA, Ebell W, van Weel M, Pronk JC, Buchwald M, Arwert F. Joenje H, et al. Among authors: di summa fm. Am J Hum Genet. 1997 Oct;61(4):940-4. doi: 10.1086/514881. Am J Hum Genet. 1997. PMID: 9382107 Free PMC article.
Dynamin 3 participates in the growth and development of megakaryocytes.
Reems JA, Wang W, Tsubata K, Abdurrahman N, Sundell B, Tijssen MR, van der Schoot E, Di Summa F, Patel-Hett S, Italiano J Jr, Gilligan DM. Reems JA, et al. Exp Hematol. 2008 Dec;36(12):1714-27. doi: 10.1016/j.exphem.2008.08.010. Exp Hematol. 2008. PMID: 19007685 Free PMC article.
12 results