45 results on '"Peake, Ian R"'
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2. Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States
3. Laboratory Analysis of Von Willebrand Disease: Molecular Analysis
4. Regulation of the human protein S gene promoter by liver enriched transcription factors
5. An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees
6. C-FMS MUTATIONAL ANALYSIS IN ACUTE MYELOID LEUKAEMIA
7. Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias
8. Mutational analysis of class III receptor tyrosine kinases (C-KIT, C-FMS, FLT3) in idiopathic myelofibrosis
9. The Molecular Basis of Hemophilia A: Genotype-Phenotype Relationships and Inhibitor Development
10. Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region
11. Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease–causing variants of von Willebrand factor
12. Rapid genotype analysis in type 2B von Willebrand's disease using a universal heteroduplex generator
13. The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance
14. Rapid two-stage PCR for detecting factor V G1691A mutation
15. Factor VIII gene rearrangements in patients with severe haemophilia A
16. A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion
17. The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance
18. The impact of bleeding history, von Willebrand factor and PFA-100(®) on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM-1VWD
19. Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study
20. Intracellular Retention, Enhanced Clearance, and Defective FVIII Binding Are Common Features of Von Willebrand Factor D'-D3 Domain Mutations in Patients with Von Willebrand Disease Type 1 From the European Mcmdm-1VWD Study
21. Investigation of the Role of Copy Number Variation In the Pathogenesis of Type 1 Von Willebrand Disease
22. FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia
23. A SECOND CASE OF Hb RENERT [β133(H11)Val → Ala]
24. Endoplasmic Reticulum Retention and Prolonged Association of a von Willebrand's Disease-Causing von Willebrand Factor Variant with ERp57 and Calnexin
25. Assembly of Multimeric von Willebrand Factor Directs Sorting of P-Selectin
26. Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S
27. Two novel type 2N von Willebrand disease–causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
28. A novel FVIII gene inversion which causes severe haemophilia A
29. High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis
30. Peripheral mononuclear cells of haemophiliacs with chronic liver disease are infected with replicating hepatitis C virus
31. A Single Base Pair Deletion in the Promoter Region of the Factor IX Gene Is Associated with Haemophilia B
32. Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
33. Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region.
34. Molecular biology of blood coagulation disorders.
35. Identification and characterization of a novel P2Y12variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study
36. Relationship between Factor VIII Mutation Type and Inhibitor Development in a Cohort of Previously Untreated Patients Treated with Recombinant Factor VIII (Recombinate™)
37. A Common Splice Site Mutation Is Shared by Two Families with Different Type 2N von Willebrand Disease Mutations
38. Severe Type III von Willebrand's Disease Caused by Deletion of Exon 42 of the von Willebrand Factor Gene: Family Studies That Identify Carriers of the Condition and a Compound Heterozygous Individual
39. Inherited Variants of Factor-VIII-Related Protein in von Willebrand's Disease
40. Correspondence c-FMS mutational analysis in acute myeloid leukaemia.
41. Characterization and Expression of an In-Frame Exon 33-34 Deletion Causing Type 1 VWD
42. FLT3internal tandem duplication mutations are rare in agnogenic myeloid metaplasia
43. Utilization of Previously Treated Patients (PTPs), Noninfected Patients (NIPs), and Previously Untreated Patients (PUPs) in the Evaluation of New Factor VIII and Factor IX Concentrates
44. Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.
45. Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques.
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