about
Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.Identification of new and known polymorphisms in glycoprotein IIb and IIIa genes by denaturing gradient gel electrophoresis.Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.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.Characterization of four novel molecular changes in the promoter region of the factor VIII gene.Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.[Student assessment of pharmacy practice experiences in France: a national survey].Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B.Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.Recombinant factor VIII products and inhibitor development in previously untreated boys with severe hemophilia A.Combined factor IX and protein C deficiency in a child: thrombogenic effects of two factor IX concentrates.Analyses of the FranceCoag cohort support immunogenicity differences among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A.Contribution of genetical analysis for diagnosis of von Willebrand's disease type 2B.Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy.Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis.A unique combination of inhibitory and partially activating mutations in β3 of a patient with variant-type Glanzmann thrombastheniaMolecular study of Glanzmann thrombasthenia in 3 patients issued from 2 different familiesCombined hereditary disorders of haemophilia B Leyden (-6 G-->A) and type 1 von Willebrand diseaseA nonsense mutation in the GPIIb heavy chain (Ser 870-->stop) impairs platelet GPIIb-IIIa expressionFactor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations[Hemophilia. Diagnosis, genetics, complications]Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genesFour cases of hypofibrinogenemia associated with four novel mutationsCharacterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations[Contribution of genetic analysis in management of hemophilie patients][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]Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts
P50
Q33369895-A0ED6E75-59BA-4363-AB60-B7A576E0DC3DQ33371674-756E69B5-4E2D-4EE7-A6E7-7ABA96342EA1Q33441295-529A9F65-D3D0-4DBE-A987-5B5E728BA8FCQ38906777-1F8E8DA5-4ECA-4909-B60B-CCFD030C9FEEQ39039126-ACA0E67B-543C-4FE8-B788-CE487D610D79Q40440312-9C240A30-E48F-4DDB-AEDA-A580263161C1Q41068228-BD316771-79E4-43D8-B8E5-C740E893F422Q45008827-F6AF3617-185D-4620-AB12-D20684FED7A3Q45855133-D487EF07-5DA2-4780-AAEA-2FC0B0EF4390Q45855717-9EF92840-821F-4E09-88F3-D437AB7D4642Q45856949-17954637-20D5-4518-BC81-81183EB4198DQ45867413-C17FDE78-FB6E-4EA3-8472-CB99C7EABC9BQ45868290-21FECE8B-DD59-48CA-91CB-CADC73B0E6DCQ45868849-BB7704DB-A7A1-4602-A2CA-B464668F55D5Q45869962-A582B56F-53ED-486F-BFD8-0F878B087C28Q45873084-B4F0C747-D0A4-4623-BED7-146779F05D0BQ45882933-7FB88C64-1675-454B-98DF-D18239D207E7Q45883537-6DA82BBB-5A71-49AC-9C26-6DB7347109C9Q47395469-3B3CDCD2-282D-4F12-BC19-D5C5388A5E50Q49155547-B68D40D0-1EA8-441F-8D4F-A5A5DDF3DBEAQ52687853-34B188A2-FEB1-44AA-903A-63960F2FF979Q53915565-96E0DF9A-E032-475F-8072-F78A74553F57Q54408576-65E43317-1928-486D-B28F-62DE704C68B0Q57017106-4CD783D3-425D-4905-9067-80A09F18DB7EQ70924411-4C517098-1085-4BEA-AF79-EA7EF664AFC7Q71671846-94704B88-4C1A-4266-8953-A5FB916F0A07Q71751735-E3FF30AB-0C56-4A19-8514-1F04D5E24199Q73267165-1C24DD5B-6E67-4BBD-AAB2-19C1BAA8151AQ77440077-86408BFA-723D-47A8-AE63-39975C51198EQ77510563-B7BE52BA-417F-4666-9560-3B3DF14C1CC0Q81284609-B63CA2C1-1C4D-4A9E-AB53-24D41EB962EAQ83120292-EB7E9F8A-AB53-445E-AE36-1C741B977DB6Q84589760-70061342-0F63-40B7-9F67-41AD3E6BF635Q87412901-2EC4DA81-E668-42DD-B9F8-1D9DE7109263Q88362385-9436EA52-4D1A-4050-B057-A8978842EB48
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Christine Vinciguerra
@ast
Christine Vinciguerra
@en
Christine Vinciguerra
@es
Christine Vinciguerra
@nl
type
label
Christine Vinciguerra
@ast
Christine Vinciguerra
@en
Christine Vinciguerra
@es
Christine Vinciguerra
@nl
prefLabel
Christine Vinciguerra
@ast
Christine Vinciguerra
@en
Christine Vinciguerra
@es
Christine Vinciguerra
@nl
P106
P21
P31
P496
0000-0002-1676-9872