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Page 1
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Fauré S, Eckly A, Trégouët DA, Poggi M, Alessi MC. Saultier P, et al. Among authors: baccini v. Haematologica. 2017 Jun;102(6):1006-1016. doi: 10.3324/haematol.2016.153577. Epub 2017 Mar 2. Haematologica. 2017. PMID: 28255014 Free PMC article.
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, BioResource N, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, Alessi MC. Poggi M, et al. Among authors: baccini v. Haematologica. 2017 Feb;102(2):282-294. doi: 10.3324/haematol.2016.147694. Epub 2016 Sep 23. Haematologica. 2017. PMID: 27663637 Free PMC article.
[Diagnosis of inherited thrombocytopenia].
Baccini V, Alessi MC. Baccini V, et al. Rev Med Interne. 2016 Feb;37(2):117-26. doi: 10.1016/j.revmed.2015.10.346. Epub 2015 Nov 23. Rev Med Interne. 2016. PMID: 26617290 Review. French.
A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.
Ghalloussi D, Saut N, Bernot D, Pillois X, Rameau P, Sébahoun G, Alessi MC, Raslova H, Baccini V. Ghalloussi D, et al. Among authors: baccini v. Br J Haematol. 2018 Nov;183(3):503-506. doi: 10.1111/bjh.14986. Epub 2017 Oct 30. Br J Haematol. 2018. PMID: 29082515 Free article. No abstract available.
Bernard-Soulier syndrome: first human case due to a homozygous deletion of GP9 gene.
Ghalloussi D, Rousset-Rouvière C, Popovici C, Garaix F, Saut N, Saultier P, Tsimaratos M, Chambost H, Alessi MC, Baccini V. Ghalloussi D, et al. Among authors: baccini v. Br J Haematol. 2020 Mar;188(6):e87-e90. doi: 10.1111/bjh.16374. Epub 2020 Feb 6. Br J Haematol. 2020. PMID: 32030720 Free article. No abstract available.
MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.
Antony-Debré I, Bluteau D, Itzykson R, Baccini V, Renneville A, Boehlen F, Morabito M, Droin N, Deswarte C, Chang Y, Leverger G, Solary E, Vainchenker W, Favier R, Raslova H. Antony-Debré I, et al. Among authors: baccini v. Blood. 2012 Sep 27;120(13):2719-22. doi: 10.1182/blood-2012-04-422352. Epub 2012 Jun 7. Blood. 2012. PMID: 22677128 Free 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: baccini v. 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.
Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0.
Manchev VT, Bouzid H, Antony-Debré I, Leite B, Meurice G, Droin N, Prebet T, Costello RT, Vainchenker W, Plo I, Diop M, Macintyre E, Asnafi V, Favier R, Baccini V, Raslova H. Manchev VT, et al. Among authors: baccini v. J Cell Mol Med. 2017 Jun;21(6):1237-1242. doi: 10.1111/jcmm.13051. Epub 2016 Dec 20. J Cell Mol Med. 2017. PMID: 27997762 Free PMC article.
26 results