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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: ouachee m. 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.
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. 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.
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: ouachee m. Pediatr Blood Cancer. 2009 Dec;53(6):1068-73. doi: 10.1002/pbc.22147. Pediatr Blood Cancer. 2009. PMID: 19618456
HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry.
Rotulo GA, Beaupain B, Rialland F, Paillard C, Nachit O, Galambrun C, Gandemer V, Bertrand Y, Neven B, Dore E, Moshous D, Filhon B, Aladjdi N, Sicre de Fontbrune F, de la Tour RP, Ouachee M, Bellanne-Chantelot C, Dalle JH, Donadieu J. Rotulo GA, et al. Among authors: ouachee m. Bone Marrow Transplant. 2020 Aug;55(8):1614-1622. doi: 10.1038/s41409-020-0800-1. Epub 2020 Jan 28. Bone Marrow Transplant. 2020. PMID: 31992846 Free PMC article.
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.
Donadieu J, Lamant M, Fieschi C, de Fontbrune FS, Caye A, Ouachee M, Beaupain B, Bustamante J, Poirel HA, Isidor B, Van Den Neste E, Neel A, Nimubona S, Toutain F, Barlogis V, Schleinitz N, Leblanc T, Rohrlich P, Suarez F, Ranta D, Chahla WA, Bruno B, Terriou L, Francois S, Lioure B, Ahle G, Bachelerie F, Preudhomme C, Delabesse E, Cave H, Bellanné-Chantelot C, Pasquet M; French GATA2 study group. Donadieu J, et al. Among authors: ouachee m. Haematologica. 2018 Aug;103(8):1278-1287. doi: 10.3324/haematol.2017.181909. Epub 2018 May 3. Haematologica. 2018. PMID: 29724903 Free PMC article.
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
Mercati O, Pichard S, Ouachée M, Froissart R, Fenneteau O, Roche B, Elmaleh-Bergès M, Bertrand Y, Ogier de Baulny H, Vanier MT, Schiff M. Mercati O, et al. Among authors: ouachee m. Eur J Paediatr Neurol. 2017 Nov;21(6):907-911. doi: 10.1016/j.ejpn.2017.07.015. Epub 2017 Jul 29. Eur J Paediatr Neurol. 2017. PMID: 28801223
Autosomal-dominant primary immunodeficiencies.
Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachée M, Casanova JL. Lawrence T, et al. Among authors: ouachee m. Curr Opin Hematol. 2005 Jan;12(1):22-30. doi: 10.1097/01.moh.0000149609.37309.0a. Curr Opin Hematol. 2005. PMID: 15604887 Review.
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