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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.
Diamond-Blackfan anemia.
Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G. Da Costa L, et al. Curr Opin Pediatr. 2001 Feb;13(1):10-5. doi: 10.1097/00008480-200102000-00002. Curr Opin Pediatr. 2001. PMID: 11176237 Review.
Ribosomal protein S19 expression during erythroid differentiation.
Da Costa L, Narla G, Willig TN, Peters LL, Parra M, Fixler J, Tchernia G, Mohandas N. Da Costa L, et al. Blood. 2003 Jan 1;101(1):318-24. doi: 10.1182/blood-2002-04-1131. Epub 2002 Aug 1. Blood. 2003. PMID: 12393682 Free article.
Postmortem diagnosis of Diamond-Blackfan anemia.
Beauchamp-Nicoud A, Da Costa L, Proust A, Rincé P, Saker S, Tchernia G. Beauchamp-Nicoud A, et al. Among authors: da costa l. J Pediatr Hematol Oncol. 2004 Dec;26(12):847-8. J Pediatr Hematol Oncol. 2004. PMID: 15591911
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
High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries.
Faivre L, Meerpohl J, Da Costa L, Marie I, Nouvel C, Gnekow A, Bender-Götze C, Bauters F, Coiffier B, Peaud PY, Rispal P, Berrebi A, Berger C, Flesch M, Sagot P, Varet B, Niemeyer C, Tchernia G, Leblanc T. Faivre L, et al. Among authors: da costa l. Haematologica. 2006 Apr;91(4):530-3. Epub 2006 Mar 15. Haematologica. 2006. PMID: 16537118
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.
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.
661 results