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List of works by Yohann Jourdy

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

scientific article

Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF.

scientific article published on 5 October 2017

Effect of five therapeutic strategies on the coagulation defect induced by the thrombomodulin c.1611C>A mutation.

scientific article

Identification of new F8 deep intronic variations in patients with haemophilia A

scientific article published on 18 August 2020

Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

scientific article published on 5 May 2017

Prospective evaluation of automatized PF4/heparin immunoassays HemosIL HIT-ab (PF4-H) for the diagnosis of heparin-induced thrombocytopenia.

scientific article

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.

scientific article published on 8 January 2018

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

scientific article published on 20 May 2019

Single-center determination of reference factor II and factor X activity level values for the monitoring of vitamin K antagonist therapy

scientific article published on 23 April 2019

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

scientific article published on 28 January 2019

Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.

scientific article published in August 2016

The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays

scientific article published on 23 October 2020

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

scientific article published on 19 February 2020

The potential value of thrombin generation assay in the diagnosis of FV inhibitors

scientific article published on 06 April 2019

Unusual spheroids in cerebrospinal fluid

scientific article published on 14 February 2012

Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

scientific article published on 16 November 2017

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