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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: gleizes pe. Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29. Haematologica. 2018. PMID: 29599205 Free PMC article.
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
Crétien A, Hurtaud C, Moniz H, Proust A, Marie I, Wagner-Ballon O, Choesmel V, Gleizes PE, Leblanc T, Delaunay J, Tchernia G, Mohandas N, Da Costa L. Crétien A, et al. Among authors: gleizes pe. Haematologica. 2008 Nov;93(11):1627-34. doi: 10.3324/haematol.13023. Epub 2008 Sep 2. Haematologica. 2008. PMID: 18768533 Free article.
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Da Costa L, et al. Among authors: gleizes pe. Eur J Med Genet. 2018 Nov;61(11):664-673. doi: 10.1016/j.ejmg.2017.10.017. Epub 2017 Oct 26. Eur J Med Genet. 2018. PMID: 29081386 Free article. Review.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
O'Donohue MF, Da Costa L, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby M, Lefevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc T, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW. O'Donohue MF, et al. Among authors: gleizes pe. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846. Blood. 2022. PMID: 35213692 Free PMC article.
Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Crétien A, Leblanc T, Tchernia G, Da Costa L, Gleizes PE. Choesmel V, et al. Among authors: gleizes pe. Blood. 2007 Feb 1;109(3):1275-83. doi: 10.1182/blood-2006-07-038372. Epub 2006 Oct 19. Blood. 2007. PMID: 17053056 Free PMC article.
[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis].
Aguissa-Touré AH, Da Costa L, Leblanc T, Tchernia G, Fribourg S, Gleizes PE. Aguissa-Touré AH, et al. Among authors: gleizes pe. Med Sci (Paris). 2009 Jan;25(1):69-76. doi: 10.1051/medsci/200925169. Med Sci (Paris). 2009. PMID: 19154697 Free article. Review. French.
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT. Landowski M, et al. Among authors: gleizes pe. Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30. Hum Genet. 2013. PMID: 23812780 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: gleizes pe. 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.
76 results