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Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients.
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.
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.
Haemophilia. 2020 Sep;26(5):847-854. doi: 10.1111/hae.14134. Epub 2020 Aug 18.
Haemophilia. 2020.
PMID: 32812322
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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. Among authors: dericquebourg a.
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.
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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.
Haemophilia. 2023 Sep;29(5):1320-1333. doi: 10.1111/hae.14824. Epub 2023 Jul 6.
Haemophilia. 2023.
PMID: 37410802
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[Long-term automated Bayesian management of IQC results: The experience of the Lyon Hospitals Board hemostasis laboratory].
Sobas F, Jousselme É, Baillat MG, Cheli E, Dericquebourg A, Nougier C.
Sobas F, et al. Among authors: dericquebourg a.
Ann Biol Clin (Paris). 2023 May 16;81(2):181-188. doi: 10.1684/abc.2023.1800.
Ann Biol Clin (Paris). 2023.
PMID: 37144779
French.
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