Lista de obras - Yohann Jourdy - Dominio Público Uruguay

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Lista de obras de Yohann Jourdy

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

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.

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

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

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

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

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

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

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

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

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

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

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

Unusual spheroids in cerebrospinal fluid

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