274 results on '"Favier, Rémi"'
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2. Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41
3. Tranexamic acid dose–response relationship for antifibrinolysis in postpartum haemorrhage during Caesarean delivery: TRACES, a double-blind, placebo-controlled, multicentre, dose-ranging biomarker study
4. Inferring the dynamics of mutated hematopoietic stem and progenitor cells induced by IFNα in myeloproliferative neoplasms
5. Neutrophil specific granule and NETosis defects in gray platelet syndrome
6. Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
7. Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
8. Disrupted filamin A/αIIbβ3 interaction induces macrothrombocytopenia by increasing RhoA activity
9. A mutation of the human EPHB2 gene leads to a major platelet functional defect
10. Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
11. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
12. Nbeal2 interacts with Dock7, Sec16a, and Vac14
13. Assessment of Coagulation by Thromboelastography During Ongoing Postpartum Hemorrhage: A Retrospective Cohort Analysis
14. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
15. An incomplete trafficking defect to the cell-surface leads to paradoxical thrombocytosis for human and murine MPL P106L
16. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
17. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
18. Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients
19. 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
20. Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation
21. Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia
22. 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
23. Tranexamic acid dose–response relationship for antifibrinolysis in postpartum haemorrhage during Caesarean delivery: TRACES, a double-blind, placebo-controlled, multicentre, dose-ranging biomarker study
24. A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene
25. Transcriptional diversity during lineage commitment of human blood progenitors
26. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors
27. Germline RUNX1 variants in paediatric patients in a French specialised centre
28. Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1, GATA2 and DDX41
29. ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia
30. Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression
31. Comparative evaluation of Tissue factor and Thrombomodulin activity changes during normal and idiopathic early and late foetal loss: The cause of hypercoagulability?
32. Mutations in NBEAL2 do not impact Weibel-Palade body biogenesis and Von Willebrand factor secretion in Gray Platelet Syndrome Endothelial Colony Forming Cells
33. Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia
34. Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity
35. Anticoagulant and antithrombotic properties of platelet protease nexin-1
36. CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag
37. Elevated circulating soluble thrombomodulin activity, tissue factor activity and circulating procoagulant phospholipids: New and useful markers for pre-eclampsia?
38. Germline RUNX1 variants in paediatric patients in a French specialised centre.
39. P19INK4D links endomitotic arrest and megakaryocyte maturation and is regulated by AML-1
40. IMMUNOGENETICS: Transcriptional diversity during lineage commitment of human blood progenitors
41. Spectrum of the Mutations in Bernard–Soulier Syndrome
42. Neutrophil specific granule and NETosis defects in gray platelet syndrome
43. Beware of hidden trains: simultaneous discovery of a MYH9-related disease and chronic lymphocytic leukaemia
44. Concomitant germ-line RUNX1 and acquired ASXL1 mutations in a T-cell acute lymphoblastic leukemia
45. A new feature of the MYH9-related syndrome: Chronic transaminase elevation
46. Le diagnostic des thrombopénies constitutionnelles: Diagnosis of inherited thrombocytopenias
47. Liste des Collaborateurs
48. Particularités du Diagnostic d'un Syndrome Hémorragique ou Thrombotique en Pédiatrie
49. Assessing bleeding risk in 18 children with Osteogenesis imperfecta
50. From Hematopoietic Stem Cells to Megakaryocytes and Platelets
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