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Page 1
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, González Fernández A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanné-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ. Finch AJ, et al. Among authors: donadieu j. Genes Dev. 2011 May 1;25(9):917-29. doi: 10.1101/gad.623011. Genes Dev. 2011. PMID: 21536732 Free PMC article.
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.
Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, Fouyssac F, Paillard C, Gandemer V, Boutard P, Schmitz J, Morali A, Leblanc T, Bellanné-Chantelot C; Associated investigators of the French Severe Chronic Neutropenia Registry*. Donadieu J, et al. Haematologica. 2012 Sep;97(9):1312-9. doi: 10.3324/haematol.2011.057489. Epub 2012 Apr 4. Haematologica. 2012. PMID: 22491737 Free PMC article.
Epidemiology of congenital neutropenia.
Donadieu J, Beaupain B, Mahlaoui N, Bellanné-Chantelot C. Donadieu J, et al. Hematol Oncol Clin North Am. 2013 Feb;27(1):1-17, vii. doi: 10.1016/j.hoc.2012.11.003. Hematol Oncol Clin North Am. 2013. PMID: 23351985 Review.
Natural history of Barth syndrome: a national cohort study of 22 patients.
Rigaud C, Lebre AS, Touraine R, Beaupain B, Ottolenghi C, Chabli A, Ansquer H, Ozsahin H, Di Filippo S, De Lonlay P, Borm B, Rivier F, Vaillant MC, Mathieu-Dramard M, Goldenberg A, Viot G, Charron P, Rio M, Bonnet D, Donadieu J. Rigaud C, et al. Among authors: donadieu j. Orphanet J Rare Dis. 2013 May 8;8:70. doi: 10.1186/1750-1172-8-70. Orphanet J Rare Dis. 2013. PMID: 23656970 Free PMC article.
Severe chronic primary neutropenia in adults: report on a series of 108 patients.
Sicre de Fontbrune F, Moignet A, Beaupain B, Suarez F, Galicier L, Socié G, Varet B, Coppo P, Michel M, Pautas C, Oksenhendler E, Lengline E, Terriou L, Moreau P, Chantepie S, Casadevall N, Michot JM, Gardembas M, Michallet M, Croisille L, Audrain M, Bellanné-Chantelot C, Donadieu J, Lamy T; French Severe Chronic Neutropenia Registry. Sicre de Fontbrune F, et al. Among authors: donadieu j. Blood. 2015 Oct 1;126(14):1643-50. doi: 10.1182/blood-2015-03-634493. Epub 2015 Aug 10. Blood. 2015. PMID: 26261239 Free article.
282 results