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Page 1
A mutation of the human EPHB2 gene leads to a major platelet functional defect.
Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet JC, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa JP, Nurden P, Bryckaert M. Berrou E, et al. Among authors: ballerini p. Blood. 2018 Nov 8;132(19):2067-2077. doi: 10.1182/blood-2018-04-845644. Epub 2018 Sep 13. Blood. 2018. PMID: 30213874 Free article.
NOTCH is a key regulator of human T-cell acute leukemia initiating cell activity.
Armstrong F, Brunet de la Grange P, Gerby B, Rouyez MC, Calvo J, Fontenay M, Boissel N, Dombret H, Baruchel A, Landman-Parker J, Roméo PH, Ballerini P, Pflumio F. Armstrong F, et al. Among authors: ballerini p. Blood. 2009 Feb 19;113(8):1730-40. doi: 10.1182/blood-2008-02-138172. Epub 2008 Nov 4. Blood. 2009. PMID: 18984862 Free 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.
Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture.
Stritt S, Nurden P, Favier R, Favier M, Ferioli S, Gotru SK, van Eeuwijk JM, Schulze H, Nurden AT, Lambert MP, Turro E, Burger-Stritt S, Matsushita M, Mittermeier L, Ballerini P, Zierler S, Laffan MA, Chubanov V, Gudermann T, Nieswandt B, Braun A. Stritt S, et al. Among authors: ballerini p. Nat Commun. 2016 Mar 29;7:11097. doi: 10.1038/ncomms11097. Nat Commun. 2016. PMID: 27020697 Free PMC article.
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi MC, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, Mozziconacci MJ, Renneville A, Ballerini P, Leverger G, Sobol H, Jonveaux P, Preudhomme C, Nurden P, Lecompte T, Favier R. Latger-Cannard V, et al. Among authors: ballerini p. Orphanet J Rare Dis. 2016 Apr 26;11:49. doi: 10.1186/s13023-016-0432-0. Orphanet J Rare Dis. 2016. PMID: 27112265 Free PMC article.
An incomplete trafficking defect to the cell-surface leads to paradoxical thrombocytosis for human and murine MPL P106L.
Favale F, Messaoudi K, Varghese LN, Boukour S, Pecquet C, Gryshkova V, Defour JP, Albu RI, Bluteau O, Ballerini P, Leverger G, Plo I, Debili N, Raslova H, Favier R, Constantinescu SN, Vainchenker W. Favale F, et al. Among authors: ballerini p. Blood. 2016 Dec 29;128(26):3146-3158. doi: 10.1182/blood-2016-06-722058. Epub 2016 Nov 10. Blood. 2016. PMID: 28034873 Free article.
Eltrombopag for the Treatment of Severe Inherited Thrombocytopenia.
Abdelmoumen K, Fabre M, Ducastelle-Lepretre S, Favier R, Ballerini P, Bordet JC, Dargaud Y. Abdelmoumen K, et al. Among authors: ballerini p. Acta Haematol. 2021;144(3):308-313. doi: 10.1159/000509922. Epub 2020 Sep 28. Acta Haematol. 2021. PMID: 32987389
220 results