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NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L, Carbone F, Riller Q, Zachayus JL, Kerbellec E, Buzy A, Stolzenberg MC, Luka M, de Cevins C, Kalouche G, Favier R, Michel A, Meynier S, Corneau A, Evrard C, Neveux N, Roudières S, Pérot BP, Fusaro M, Lenoir C, Pellé O, Parisot M, Bras M, Héritier S, Leverger G, Korganow AS, Picard C, Latour S, Collet B, Fischer A, Neven B, Magérus A, Ménager M, Pasquier B, Rieux-Laucat F. Delage L, et al. Among authors: favier r. Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. Nat Commun. 2023. PMID: 37349339 Free PMC article.
Germline RUNX1 variants in paediatric patients in a French specialised centre.
Liu C, Ballerini P, Nguyen G, Mincheva Z, Copin B, Bouslama B, Leverger G, Petit A, Favier R, Lapillonne H, Boutroux H. Liu C, et al. Among authors: favier r. EJHaem. 2022 Nov 6;4(1):145-152. doi: 10.1002/jha2.594. eCollection 2023 Feb. EJHaem. 2022. PMID: 36819173 Free PMC article.
Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells.
Kat M, van Moort I, Bürgisser PE, Kuijpers TW, Hofman M, Favier M, Favier R, Margadant C, Voorberg J, Bierings R. Kat M, et al. Among authors: favier r. Res Pract Thromb Haemost. 2023 Feb 14;7(2):100086. doi: 10.1016/j.rpth.2023.100086. eCollection 2023 Feb. Res Pract Thromb Haemost. 2023. PMID: 36923710 Free PMC article.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program. Homan CC, et al. Among authors: favier r. Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045. Blood Adv. 2023. PMID: 37406166 Free PMC article.
ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis.
Basso-Valentina F, Donada A, Manchev VT, Lisetto M, Balayn N, Martin JE, Muller D, Oyarzun CPM, Duparc H, Arkoun B, Cumin A, Faivre L, Droin N, Biunno I, Pecci A, Balduini A, Debili N, Antony-Debré I, Marty C, Vainchenker W, Plo I, Favier R, Raslova H. Basso-Valentina F, et al. Among authors: favier r. Haematologica. 2023 Aug 1;108(8):2130-2145. doi: 10.3324/haematol.2022.282049. Haematologica. 2023. PMID: 36794499 Free PMC article.
Tranexamic acid dose-response relationship for antifibrinolysis in postpartum haemorrhage during Caesarean delivery: TRACES, a double-blind, placebo-controlled, multicentre, dose-ranging biomarker study.
Ducloy-Bouthors AS, Gilliot S, Kyheng M, Faraoni D, Turbelin A, Keita-Meyer H, Rigouzzo A, Moyanotidou G, Constant B, Broisin F, Gouez AL, Favier R, Peynaud E, Ghesquiere L, Lebuffe G, Duhamel A, Allorge D, Susen S, Hennart B, Jeanpierre E, Odou P; TRACES working group. Ducloy-Bouthors AS, et al. Among authors: favier r. Br J Anaesth. 2022 Dec;129(6):937-945. doi: 10.1016/j.bja.2022.08.033. Epub 2022 Oct 13. Br J Anaesth. 2022. PMID: 36243576 Free PMC article. Clinical Trial.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Clonal evolution in hereditary thrombocytosis with MPL T487A mutation.
Vasseur L, Favier R, Kim R, Rabian F, Cabannes-Hamy A, Cassinat B, Maslah N, Vasquez N, Clappier E, Kiladjian JJ, Boissel N. Vasseur L, et al. Among authors: favier r. Pediatr Blood Cancer. 2023 Feb;70(2):e29905. doi: 10.1002/pbc.29905. Epub 2022 Aug 4. Pediatr Blood Cancer. 2023. PMID: 35924408 No abstract available.
274 results