34 results on '"Giansily‐Blaizot, Muriel"'
Search Results
2. Surgery in rare bleeding disorders: the prospective MARACHI study
3. A newly identified ferritin L‐subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
4. Critical evaluation of kinetic schemes for coagulation
5. Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families
6. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis
7. Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin
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. A novel mutation of the β-globin gene promoter (−102 C>A) and pitfalls in family screening
11. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency
12. Increased incidence of germline PIEZO1mutations in individuals with idiopathic erythrocytosis
13. Recombinant human factor VIIa (rFVIIa) in hemophilia: mode of action and evidence to date
14. Prospective Evaluation of Bleeding Incidence in Fibrinogen Deficiency (PRO-RBDD Study)
15. Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis
16. Coagulation Factor Activity Level and Clinical Bleeding Severity in Rare Bleeding Disorders: Results From the European Network of Rare Bleeding Disorders (EN-RBD),
17. At Disease Presentation, Severity of the Bleeding Symptom Predicts the Following Bleeds in Patients with FVII Deficiency
18. Replacement Therapy for Minor Surgery and Invasive Procedures in Factor VII Deficiency: The STER Experience
19. Prophylaxis In Congenital Factor VII Deficiency, Indications, Efficacy and Safety: Results of the STER
20. The Southern French Registry of Genetic Hemochromatosis, a Tool for Determination of Clinical Prevalence and Genotype Penetrance of the Disorder.
21. Successful Treatment of Intra-Cranial Hemorrhage with Repeated Doses of Activated Recombinant FVII in a Newborn with Severe Factor VII Deficiency.
22. Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.
23. Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)
24. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.
25. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
26. Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER).
27. Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
28. Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.
29. HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.
30. The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.
31. Global sequencing approach for characterizing the molecular background of hereditary iron disorders.
32. A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening.
33. Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?
34. Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency.
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