Mathilde Frétigny
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View article: Characterization of an Anti-Factor VIII Inhibitor Related To P.Arg2178Cys Mutation in A Patient with Mild Haemophilia A
Characterization of an Anti-Factor VIII Inhibitor Related To P.Arg2178Cys Mutation in A Patient with Mild Haemophilia A Open
In patients with inherited mild haemophilia treated with clotting factor concentrates, the risk of inhibitor development is lower than in severe haemophilia. We report the observation of a 38-year-old man, with mild haemophilia A, previous…
View article: PB0210 Heterozygous Structural Variation Mimicking Homozygous Substitution in MCFD2 in a French Patient with Combined Factor V and Factor VIII Deficiency
PB0210 Heterozygous Structural Variation Mimicking Homozygous Substitution in MCFD2 in a French Patient with Combined Factor V and Factor VIII Deficiency Open
asymptomatic phenotype.BAT in a group of bleeding patients was ranged 1-4, most often presented by epistaxis, bruising and menorrhagia. Conclusion(s):The majority of dysfibrinogenemic patients in our cohort with hotspot mutation of p.Arg35…
View article: Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6 Open
View article: The EHA Research Roadmap: Blood Coagulation and Hemostatic Disorders
The EHA Research Roadmap: Blood Coagulation and Hemostatic Disorders Open
In 2016, the European Hematology Association (EHA) published the EHA Roadmap for European Hematology Research1 aiming to highlight achievements in the diagnostics and treatment of blood disorders, and to better inform Eur…
View article: Abnormal bleeding phenotype for mild haemophilia B patients with the p.Ile112Thr variation on the gene for factor IX
Abnormal bleeding phenotype for mild haemophilia B patients with the p.Ile112Thr variation on the gene for factor IX Open
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View article: The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events
The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events Open
View article: Prednisolone treatment induced temporary factor IX normalization in mild hemophilia B who required an epidural infiltration: A case report
Prednisolone treatment induced temporary factor IX normalization in mild hemophilia B who required an epidural infiltration: A case report Open
View article: Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing
Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing Open
View article: Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization Open
View article: Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability
Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability Open
View article: Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the<i>ITGA2B</i>and<i>ITGB3</i>Genes in a Large International Cohort
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the<i>ITGA2B</i>and<i>ITGB3</i>Genes in a Large International Cohort Open
We report the largest international study on Glanzmann thrombasthenia (GT), an inherited bleeding disorder where defects of the ITGA2B and ITGB3 genes cause quantitative or qualitative defects of the αIIbβ3 integrin, a key mediator of plat…