Jourdy Y - Search Results

1

Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency.

Rezigue H, Chamouni P, Fretigny M, Barbay V, Le Cam-Duchez V, Bobee V, Lanne S, Dumesnil C, Vinciguerra C, Schneider P, Jourdy Y. Rezigue H, et al. Among authors: jourdy y. Haemophilia. 2024 Jul;30(4):1089-1091. doi: 10.1111/hae.15038. Epub 2024 May 19. Haemophilia. 2024. PMID: 38764219 No abstract available.

2

Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A.

Jourdy Y, Chatron N, Frétigny M, Zawadzki C, Lienhart A, Stieltjes N, Rohrlich PS, Thauvin-Robinet C, Volot F, Hamida YF, Hariti G, Leuci A, Dargaud Y, Sanlaville D, Vinciguerra C. Jourdy Y, et al. J Thromb Haemost. 2024 Jun;22(6):1616-1626. doi: 10.1016/j.jtha.2024.03.002. Epub 2024 Mar 13. J Thromb Haemost. 2024. PMID: 38484912

3

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

Dericquebourg A, Fretigny M, Leuci A, Zawadzki C, Huguenin Y, Castet SM, Dargaud Y, Vinciguerra C, Jourdy Y. Dericquebourg A, et al. Among authors: jourdy y. Haemophilia. 2023 Sep;29(5):1320-1333. doi: 10.1111/hae.14824. Epub 2023 Jul 6. Haemophilia. 2023. PMID: 37410802

4

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

Dericquebourg A, Fretigny M, Chatron N, Tardy B, Zawadzki C, Chambost H, Vinciguerra C, Jourdy Y. Dericquebourg A, et al. Among authors: jourdy y. J Thromb Haemost. 2023 Apr;21(4):828-837. doi: 10.1016/j.jtha.2022.12.005. Epub 2022 Dec 22. J Thromb Haemost. 2023. PMID: 36696202 Free article.

5

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

Jourdy Y, Chatron N, Fretigny M, Dericquebourg A, Sanlaville D, Vinciguerra C. Jourdy Y, et al. J Thromb Haemost. 2022 Oct;20(10):2293-2305. doi: 10.1111/jth.15835. Epub 2022 Aug 16. J Thromb Haemost. 2022. PMID: 35894111 Free article.

6

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.

Jourdy Y, Bardel C, Fretigny M, Diguet F, Rollat-Farnier PA, Mathieu ML, Labalme A, Sanlaville D, Edery P, Vinciguerra C, Schluth-Bolard C. Jourdy Y, et al. Haemophilia. 2022 Jan;28(1):117-124. doi: 10.1111/hae.14402. Epub 2021 Sep 4. Haemophilia. 2022. PMID: 34480810

7

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

Lassalle F, Jourdy Y, Jouan L, Swystun L, Gauthier J, Zawadzki C, Goudemand J, Susen S, Rivard GE, Lillicrap D. Lassalle F, et al. Among authors: jourdy y. Haemophilia. 2020 Nov;26(6):1056-1063. doi: 10.1111/hae.14179. Epub 2020 Oct 23. Haemophilia. 2020. PMID: 33094873

8

Reversal of rivaroxaban anticoagulant effect by prothrombin complex concentrates: which dose is sufficient to restore normal thrombin generation?

Giffard-Quillon L, Desmurs-Clavel H, Grange C, Jourdy Y, Dargaud Y. Giffard-Quillon L, et al. Among authors: jourdy y. Thromb J. 2020 Aug 24;18:15. doi: 10.1186/s12959-020-00228-9. eCollection 2020. Thromb J. 2020. PMID: 32855623 Free PMC article.

9

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

Dericquebourg A, Jourdy Y, Fretigny M, Lienhart A, Claeyssens S, Ternisien C, Boisseau P, Rohrlich PS, Négrier C, Vinciguerra C. Dericquebourg A, et al. Among authors: jourdy y. Haemophilia. 2020 Sep;26(5):847-854. doi: 10.1111/hae.14134. Epub 2020 Aug 18. Haemophilia. 2020. PMID: 32812322

10

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.

Jourdy Y, Frétigny M, Lassalle F, Lillicrap D, Négrier C, Vinciguerra C. Jourdy Y, et al. J Thromb Haemost. 2020 May;18(5):1087-1093. doi: 10.1111/jth.14771. Epub 2020 Mar 20. J Thromb Haemost. 2020. PMID: 32073743 Free article.

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