PB0210 Heterozygous Structural Variation Mimicking Homozygous Substitution in MCFD2 in a French Patient with Combined Factor V and Factor VIII Deficiency

Authors: Jourdy, Y., Chamouni, P., Fretigny, M., Barbay, V., Le Cam Duchez, V., Bobee, V., Lanne, S., Schneider, P., Vinciguerra, C.

Source: In Research and Practice in Thrombosis and Haemostasis October 2023 7 Supplement 2

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

Authors: Jourdy, Y., Chatron, N., Fretigny, M., Carage, M. L., Chambost, H., Claeyssens-Donadel, S., Roussel-Robert, V., Negrier, C., Sanlaville, D., Vinciguerra, C.

Source: HAEMOPHILIA -OXFORD-. 23(4):e316-e323

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN385324375&indx=1&recIds=ETOCRN385324375

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

Authors: Jourdy, Y., Chatron, N., Carage, M. L., Fretigny, M., Meunier, S., Zawadzki, C., Gay, V., Negrier, C., Sanlaville, D., Vinciguerra, C.

Source: JOURNAL OF THROMBOSIS AND HAEMOSTASIS. 14(10):1988-1993

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN381895244&indx=1&recIds=ETOCRN381895244

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

Authors: Jourdy, Y., Nougier, C., Roualdes, O., Fretigny, M., Durand, B., Negrier, C., Vinciguerra, C.

Source: HAEMOPHILIA -OXFORD-. 22(4):583-589

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN380973246&indx=1&recIds=ETOCRN380973246

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

Authors: Dargaud, Y., Jourdy, Y., Le Quellec, S., Hemker, C. H., Lindhout, T., Castoldi, E., Negrier, C.

Source: BRITISH JOURNAL OF HAEMATOLOGY. 174(6):993-996

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN380398677&indx=1&recIds=ETOCRN380398677

Caracteristiques immuno-analytiques de l'ADAMTS 13

Authors: Jourdy, Y., Le Quellec, S., Nougier, C.

Source: IMMUNOANALYSE ET BIOLOGIE SPÉCIALISÉE. 28(2-3):152-157

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN331293529&indx=1&recIds=ETOCRN331293529

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.

Authors: Jousselme, E.¹ emilie.jousselme@chu-lyon.fr, Jourdy, Y.^1,2, Rugeri, L.³, Négrier, C.^1,2,3, Nougier, C.¹

Source: International Journal of Laboratory Hematology. Feb2018, Vol. 40 Issue 1, p77-83. 7p.

Subject Terms: *VON Willebrand disease, *CHEMILUMINESCENCE assay, *STATISTICAL correlation, *ENZYME-linked immunosorbent assay, *PEPTIDES, *PHENOTYPES, *DIAGNOSIS

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

Authors: Jourdy, Y.¹, Nougier, C.¹, Rugeri, L.¹, Bordet, J. C.¹, Sobas, F.¹, Negrier, C.¹

Source: International Journal of Laboratory Hematology. Apr2015, Vol. 37 Issue 2, p244-252. 9p.

Subject Terms: *AUTOMATION, *BLOOD platelet aggregation, *COMPARATIVE studies, *CONFIDENCE intervals, *ENZYME-linked immunosorbent assay, *HEPARIN, *IMMUNOASSAY, *LABORATORIES, *LONGITUDINAL method, *PROBABILITY theory, *RESEARCH funding, *STATISTICS, *EVALUATION research, *THROMBOCYTOPENIA, *PREDICTIVE tests, *RECEIVER operating characteristic curves, *DATA analysis software, *KRUSKAL-Wallis Test, *DIAGNOSIS, RESEARCH evaluation

Unusual spheroids in cerebrospinal fluid

Authors: Jallades, L., Jourdy, Y., Morel, D., Goedert, G., Baseggio, L., Felman, P.

Source: EUROPEAN JOURNAL OF HAEMATOLOGY. 89(1):94-94

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN313941500&indx=1&recIds=ETOCRN313941500

Study of six patients with complete F9deletion characterized by cytogenetic microarray: role of the SOX3gene in intellectual disability

Authors: Jourdy, Y., Chatron, N., Carage, M.‐L., Fretigny, M., Meunier, S., Zawadzki, C., Gay, V., Negrier, C., Sanlaville, D., Vinciguerra, C.

Source: Journal of Thrombosis and Haemostasis; October 2016, Vol. 14 Issue: 10 p1988-1993, 6p

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