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Page 1
The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Ulirsch JC, et al. Among authors: da costa l. Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503522 Free PMC article.
Diamond-blackfan anemia and growth status: the French registry.
Chen S, Warszawski J, Bader-Meunier B, Tchernia G, Da Costa L, Marie I, Dommergues JP; Société Française d'Hématologie et d'Immunologie Pédiatrique. Chen S, et al. Among authors: da costa l. J Pediatr. 2005 Nov;147(5):669-73. doi: 10.1016/j.jpeds.2005.06.007. J Pediatr. 2005. PMID: 16291361
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: da costa l. 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.
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA. Gazda HT, et al. Among authors: da costa l. Am J Hum Genet. 2006 Dec;79(6):1110-8. doi: 10.1086/510020. Epub 2006 Nov 2. Am J Hum Genet. 2006. PMID: 17186470 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: da costa l. Haematologica. 2008 Nov;93(11):1627-34. doi: 10.3324/haematol.13023. Epub 2008 Sep 2. Haematologica. 2008. PMID: 18768533 Free 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: da costa l. Med Sci (Paris). 2009 Jan;25(1):69-76. doi: 10.1051/medsci/200925169. Med Sci (Paris). 2009. PMID: 19154697 Free article. Review. French.
Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.
Crétien A, Proust A, Delaunay J, Rincé P, Leblanc T, Ducrocq R, Simansour M, Marie I, Tamary H, Meerpohl J, Niemeyer C, Gazda H, Sieff C, Ball S, Tchernia G, Mohandas N, Da Costa L. Crétien A, et al. Among authors: da costa l. Am J Hematol. 2010 Feb;85(2):111-6. doi: 10.1002/ajh.21601. Am J Hematol. 2010. PMID: 20054847 Free article.
669 results