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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B. Pennamen P, et al. Among authors: bordet jc. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565547 Free PMC article.
First description of an IgM monoclonal antibody causing αIIb β3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia.
Pillois X, Guy A, Choquet É, James C, Tuffigo M, Viallard JF, Garcia C, Bordet JC, Jandrot-Perrus M, Payrastre B, Fiore M. Pillois X, et al. Among authors: bordet jc. J Thromb Haemost. 2019 May;17(5):795-802. doi: 10.1111/jth.14424. Epub 2019 Apr 19. J Thromb Haemost. 2019. PMID: 30868743 Free article.
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: bordet jc. Haematologica. 2017 Jun;102(6):1006-1016. doi: 10.3324/haematol.2016.153577. Epub 2017 Mar 2. Haematologica. 2017. PMID: 28255014 Free PMC article.
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.
Saultier P, Cabantous S, Puceat M, Peiretti F, Bigot T, Saut N, Bordet JC, Canault M, van Agthoven J, Loosveld M, Payet-Bornet D, Potier D, Falaise C, Bernot D, Morange PE, Alessi MC, Poggi M. Saultier P, et al. Among authors: bordet jc. J Thromb Haemost. 2021 Sep;19(9):2287-2301. doi: 10.1111/jth.15412. Epub 2021 Jul 10. J Thromb Haemost. 2021. PMID: 34060193 Free article.
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: bordet jc. 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.
Platelet δ-Storage Pool Disease: An Update.
Dupuis A, Bordet JC, Eckly A, Gachet C. Dupuis A, et al. Among authors: bordet jc. J Clin Med. 2020 Aug 4;9(8):2508. doi: 10.3390/jcm9082508. J Clin Med. 2020. PMID: 32759727 Free PMC article. Review.
83 results