44 results on '"Giansily‐Blaizot, Muriel"'
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2. Surgery in rare bleeding disorders: the prospective MARACHI study
3. Critical evaluation of kinetic schemes for coagulation
4. Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families
5. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis
6. Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin
7. Critical evaluation of kinetic schemes for coagulation
8. Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis
9. The Clinical Severity of Alpha-2 Globin Gene Variants: Homozygosity for Hb Agrinio (HBA2: c.89T>C) Leads to Severe Antenatal Anemia, about 8 Cases in 3 Families
10. The EAHAD blood coagulation factor VII variant database
11. The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers
12. The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C]
13. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency
14. Molecular analysis of eight severe FV‐deficient patients in Pakistan: A large series of homozygous for frameshift mutations
15. Kinetics of the coagulation cascade including the contact activation system: sensitivity analysis and model reduction
16. Genotyping of five Pakistani patients with severe inherited factor X deficiency
17. Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis
18. Recombinant human factor VIIa (rFVIIa) in hemophilia: mode of action and evidence to date
19. Factor VII variants: which thromboplastin is the most relevant for FVII activity measurement?
20. Prospective Evaluation of Bleeding Incidence in Fibrinogen Deficiency (PRO-RBDD Study)
21. Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis
22. Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology
23. The role of genetic factors in patients with hepatocellular carcinoma and iron overload – a prospective series of 234 patients
24. Déficit constitutionnel en facteur VII et chirurgie orthopédique majeure : entre risque hémorragique et risque thrombotique
25. Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis
26. Coagulation factor VII variants resistant to inhibitory antibodies
27. Is the coexistence of thromboembolic events and Factor VII deficiency fortuitous?
28. Lethal factor VII deficiency due to novel mutations in the F7 promoter: Functional analysis reveals disruption of HNF4 binding site
29. Coagulation Factor Activity Level and Clinical Bleeding Severity in Rare Bleeding Disorders: Results From the European Network of Rare Bleeding Disorders (EN-RBD),
30. At Disease Presentation, Severity of the Bleeding Symptom Predicts the Following Bleeds in Patients with FVII Deficiency
31. Replacement Therapy for Minor Surgery and Invasive Procedures in Factor VII Deficiency: The STER Experience
32. Prophylaxis In Congenital Factor VII Deficiency, Indications, Efficacy and Safety: Results of the STER
33. Comprehensive pediatric care of rare bleeding disorders
34. The Southern French Registry of Genetic Hemochromatosis, a Tool for Determination of Clinical Prevalence and Genotype Penetrance of the Disorder.
35. Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency
36. A novel mutation of the β-globin gene promoter (−102 C>A) and pitfalls in family screening
37. Successful Treatment of Intra-Cranial Hemorrhage with Repeated Doses of Activated Recombinant FVII in a Newborn with Severe Factor VII Deficiency.
38. Accurate characterization of the IVS7 repeat polymorphism of FVII gene and identification of three novel allelic forms
39. Potential predictors of bleeding risk in inherited factorVII deficiency
40. Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop)
41. Thrombin Generation Measurement in Factor VII-Depleted Plasmas Compared to Inherited Factor VII-Deficient Plasmas
42. Model of a Ternary Complex between Activated Factor VII, Tissue Factor and Factor IX
43. Prenatal diagnosis of severe factor vii deficiency using mutation detection and linkage analysis
44. Transferrin Receptor-2 Gene and Non-C282Y Homozygous Patients with Hemochromatosis
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