242 results on '"Vinciguerra, C."'
Search Results
2. Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis
3. PB0210 Heterozygous Structural Variation Mimicking Homozygous Substitution in MCFD2 in a French Patient with Combined Factor V and Factor VIII Deficiency
4. Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family
5. Identification des lacunes de connaissances des étudiants en filière officine débutant le stage de 5e année : propositions pour modifier le contenu de l’enseignement
6. Activités et ressenti des étudiants concernant les stages des études de pharmacie en France
7. Eye movement abnormalities in a patient with Zellweger spectrum disorder
8. Genotyping Might Help Therapeutic Decision Making in Patients with Von Willebrand Disease Type 2 B (VWD2B): OR07
9. Plasma-derived factor VIII products and inhibitor development in previously untreated boys with severe hemophilia A: report of the FranceCoag Network: OR143
10. Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
11. Characterization of four novel molecular changes in the promoter region of the factor VIII gene
12. Hydroxychloroquine neuromyotoxicity: a case with rapid course and complete recovery
13. Prediction by cellular expression of impact of four novel F8 molecular variations identified in isolated female with low FVIII:C levels suspected of being haemophilia A carriers: PB 2.35–1
14. Complex gene rearrangement combining both large F9 gene duplication and exon 6 deletion in severe hemophilia B patients: PB 1.39–4
15. An amazing 10th century old mutation with a high prevalence in haemophilia B patients of the Rhone-Alpes region, France: PB 1.39–5
16. Identification of mutations associated with hemophilia A: A French Caribbean experience: PO-MO-152
17. Various genetic mechanisms resulting in phenotypic expression of hemophilia A in three females: PO-MO-138
18. Peak width of skeletonized mean diffusivity (PSMD) and cognitive functions in relapsing-remitting multiple sclerosis
19. Stratigraphy of the Paleocene continental sedimentary succession of the northern Pyrenean basin (Corbières, southern France) using δ 13 C org isotopes
20. Hemophilia A genotyping using DHPLC: experience concerning 486 patients: 21P24
21. Molecular analysis of haemophilia: guidelines from the French Haemophilia Care Centre Network: 21P25
22. Risk factors of inhibitor in 321 PUPs with severe haemophilia A: results of the FranceCoag Network: 17P18
23. Surgery and transfusions are associated with higher inhibitor incidence in 104 PUPs with severe haemophilia A: 17P32
24. The French Haemophilia Molecular Laboratory Network: five yearsʼ experience: 15P03
25. Study of 7 large deletions of beginning or end of F8 gene in severe hemophilia A patients: OC-TU-073
26. Contribution of genetical analysis for diagnosis of von Willebrandʼs disease type 2B
27. Synthesis of GPIbβ with novel transmembrane and cytoplasmic sequences in a Bernard–Soulier patient resulting in GPIb-defective signaling in CHO cells
28. Four cases of hypofibrinogenemia associated with four novel mutations
29. Two novel mutations in EGF‐like domains of human factor IX dramatically impair intracellular processing and secretion
30. A nonsense mutation in the GPIIb heavy chain (Ser 870 --> stop) impairs platelet GPIIb-IIIa expression
31. Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability
32. Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts
33. Identification of knowledge deficits of pharmacy students at the beginning of the fifth year of pharmacy practice experience: Proposals to change the content of academic programs
34. Molecular cytogenetic characterization of fiveF8complex rearrangements: utility for haemophilia A genetic counselling
35. Stratigraphy of the Paleocene continental sedimentary succession of the northern Pyrenean basin (Corbières, southern France) using δ13Corg isotopes.
36. Characterization of five associations of F8 missense mutations containing FVIII B domain mutations
37. Usefulness of anin vitrocellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in theF8gene in women with isolated factor VIII:C deficiency
38. Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.
39. Characterization of four novel molecular changes in the promoter region of the factor VIII gene
40. Homozygosity for P.Cys183ser mutation in Notch3 gene may influence the severity of clinical presentation? Report of an Italian family
41. 349 RELATION BETWEEN NON-INVASIVE LIVER FIBROSIS TESTS AND CIRRHOSIS COMPLICATIONS
42. Apports de la génétique dans la prise en charge de l’hémophilie
43. Déficit combiné en facteurs V et VIII de la coagulation : ou quand la génétique nous explique les déficits combinés de facteurs de la coagulation
44. Thromboélastométrie rotative : réhabilitation de l'ancienne thromboélastographie
45. Intérêt de l'analyse de la mesure optique du TCA sur l'automate MDA II (bioMérieux) dans la prise en charge des patients avec syndrome de réponse inflammatoire systémique
46. LETTERS TO THE EDITOR: Four cases of hypofibrinogenemia associated with four novel mutations
47. Description of 10 new mutations in platelet glycoprotein IIb (αIIb) and glycoprotein IIIa (β3) genes
48. Study of six patients with complete F9deletion characterized by cytogenetic microarray: role of the SOX3gene in intellectual disability
49. Identification des lacunes de connaissances des étudiants en filière officine débutant le stage de 5eannée : propositions pour modifier le contenu de l’enseignement
50. Factor IX Gene Analysis In 70 Unrelated Patients with Haemophilia B: Description of 13 New Mutations
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