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Page 1
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J. Bellanné-Chantelot C, et al. Among authors: donadieu j. Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18. Blood. 2018. PMID: 29914977 Free PMC article.
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J. Bellanné-Chantelot C, et al. Among authors: donadieu j. Blood. 2004 Jun 1;103(11):4119-25. doi: 10.1182/blood-2003-10-3518. Epub 2004 Feb 12. Blood. 2004. PMID: 14962902 Free article.
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.
Donadieu J, Leblanc T, Bader Meunier B, Barkaoui M, Fenneteau O, Bertrand Y, Maier-Redelsperger M, Micheau M, Stephan JL, Phillipe N, Bordigoni P, Babin-Boilletot A, Bensaid P, Manel AM, Vilmer E, Thuret I, Blanche S, Gluckman E, Fischer A, Mechinaud F, Joly B, Lamy T, Hermine O, Cassinat B, Bellanné-Chantelot C, Chomienne C; French Severe Chronic Neutropenia Study Group. Donadieu J, et al. Haematologica. 2005 Jan;90(1):45-53. Haematologica. 2005. PMID: 15642668
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia.
Link DC, Kunter G, Kasai Y, Zhao Y, Miner T, McLellan MD, Ries RE, Kapur D, Nagarajan R, Dale DC, Bolyard AA, Boxer LA, Welte K, Zeidler C, Donadieu J, Bellanné-Chantelot C, Vardiman JW, Caligiuri MA, Bloomfield CD, DiPersio JF, Tomasson MH, Graubert TA, Westervelt P, Watson M, Shannon W, Baty J, Mardis ER, Wilson RK, Ley TJ. Link DC, et al. Among authors: donadieu j. Blood. 2007 Sep 1;110(5):1648-55. doi: 10.1182/blood-2007-03-081216. Epub 2007 May 9. Blood. 2007. PMID: 17494858 Free PMC article. Clinical Trial.
Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry.
Beaupain B, Leblanc T, Reman O, Hermine O, Vannier JP, Suarez F, Lutz P, Bordigoni P, Jourdain A, Schoenvald M, Ouachee M, François S, Kohser F, Jardin F, Devouassoux G, Bertrand Y, Nove-Josserand R, Donadieu J; French SCN Registry, Service d'Hémato Oncologie Pédiatrique. Beaupain B, et al. Among authors: donadieu j. Pediatr Blood Cancer. 2009 Dec;53(6):1068-73. doi: 10.1002/pbc.22147. Pediatr Blood Cancer. 2009. PMID: 19618456
Complications and treatment of patients with β-thalassemia in France: results of the National Registry.
Thuret I, Pondarré C, Loundou A, Steschenko D, Girot R, Bachir D, Rose C, Barlogis V, Donadieu J, de Montalembert M, Hagege I, Pegourie B, Berger C, Micheau M, Bernaudin F, Leblanc T, Lutz L, Galactéros F, Siméoni MC, Badens C. Thuret I, et al. Among authors: donadieu j. Haematologica. 2010 May;95(5):724-9. doi: 10.3324/haematol.2009.018051. Epub 2009 Dec 8. Haematologica. 2010. PMID: 20007138 Free PMC article.
B-cell and T-cell phenotypes in CVID patients correlate with the clinical phenotype of the disease.
Mouillot G, Carmagnat M, Gérard L, Garnier JL, Fieschi C, Vince N, Karlin L, Viallard JF, Jaussaud R, Boileau J, Donadieu J, Gardembas M, Schleinitz N, Suarez F, Hachulla E, Delavigne K, Morisset M, Jacquot S, Just N, Galicier L, Charron D, Debré P, Oksenhendler E, Rabian C; DEFI Study Group. Mouillot G, et al. Among authors: donadieu j. J Clin Immunol. 2010 Sep;30(5):746-55. doi: 10.1007/s10875-010-9424-3. Epub 2010 May 1. J Clin Immunol. 2010. PMID: 20437084
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.
276 results