[HTML][HTML] Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6

…, N Chatron, M Fretigny, A Dericquebourg… - Journal of Thrombosis …, 2022 - Elsevier
Background Large F8 deletions represent 3–5% of the variations found in severe
hemophilia A patients, but only a few deletion breakpoints have been characterized …

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

A Dericquebourg, Y Jourdy, M Fretigny… - …, 2020 - Wiley Online Library
Introduction With current molecular diagnosis, about 1 to 5% of haemophilia A (HA) patients
remain genetically unresolved. In these cases, deep intronic variation or structural variation …

Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients

A Dericquebourg, M Fretigny, N Chatron… - Journal of Thrombosis …, 2023 - Elsevier
Background The disease-causative variant remains unidentified in approximately 0.5% to
2% of hemophilia B patients using conventional genetic investigations, and F9 deep intronic …

Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A

A Dericquebourg, M Fretigny, A Leuci… - …, 2023 - Wiley Online Library
Introduction Conventional genetic investigation fails to identify the F8 causal variant in 2.5%‐
10% of haemophilia A (HA) patients with non‐severe phenotypes. In these cases, F8 deep …

[PDF][PDF] Déploiement d'une gestion automatisée au long cours des résultats de CIQ en approche bayésienne: retours d'expérience du Laboratoire d'hémostase aux …

…, MOG Baillat, E Cheli, A Dericquebourg… - Annales de Biologie …, 2023 - researchgate.net
Le laboratoire d'hémostase des Hospices Civils de Lyon est passé de l'approche
conventionnelle dite fréquentiste à l'approche bayésienne au long cours de gestion des …

PS-013 Errare humanum est, not only… a review of errors due to computerised physician order entry (CPOE)

A Dericquebourg, M Watel, G Strobbe, G Marliot, I Sakji… - 2015 - ejhp.bmj.com
Background Prescription computerization is an undeniable step forward in terms of safety. It
can significantly reduce the errors associated with handwritten prescriptions. However these …

Long-term automated Bayesian management of IQC results: The experience of the Lyon Hospitals Board hemostasis laboratory

…, MOG Baillat, E Cheli, A Dericquebourg… - Annales de Biologie …, 2023 - jle.com
Le laboratoire d'hémostase des Hospices Civils de Lyon est passé de l'approche
conventionnelle dite fréquentiste à l'approche bayésienne au long cours de gestion des …

La juste prescription des bilans de coagulation en anesthésie pédiatrique aux HCL: étude HemoScoP

A Dericquebourg - 2018 - hal.univ-lorraine.fr
En France, plus de 80% des diagnostics s' appuient sur les examens de biologie médicale,
dont la dépense totale représente 2% des remboursements de la Sécurité Sociale. Dans le …

[CITATION][C] Comparison of three assays for measuring factor IX

A Dericquebourg, Y Jourdy… - …, 2018 - … ST, HOBOKEN 07030-5774, NJ USA

[CITATION][C] IDENTIFICATION OF TWO LARGE CHROMOSOMAL REARRANGEMENTS LEADING TO SEVERE HAEMOPHILIA A USING WHOLE F8 GENE …

Y Jourdy, A Dericquebourg… - …, 2021 - … ST, HOBOKEN 07030-5774, NJ USA