1. Molecular analysis of eight severe FV‐deficient patients in Pakistan: A large series of homozygous for frameshift mutations. Issue 4 (29th March 2019) Authors: Borhany, Munira; Ranc, Alexandre; Fretigny, Mathilde; Moulis, Grégory; Abid, Madiha; Shamsi, Tahir; Giansily‐Blaizot, Muriel Journal: Haemophilia Issue: Volume 25:Issue 4(2019) Page Start: e278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The EHA Research Roadmap: Blood Coagulation and Hemostatic Disorders. Issue 10 (10th October 2021) Authors: Eichinger, Sabine; Morange, Pierre E.; Cattaneo, Marco; Fretigny, Mathilde; Rauch, Antoine; van Hylckama Vlieg, Astrid; Trégouët, David-Alexandre; Ruf, Wolfram; Levi, Marcel; Páramo, José A.; van der Poll, Tom; Kyrle, Paul A.; Garagiola, Isabella; Peyvandi, Flora Journal: HemaSphere Issue: Volume 5:Issue 10(2021) Page Start: e643 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification of new F8 deep intronic variations in patients with haemophilia A. Issue 5 (18th August 2020) Authors: Dericquebourg, Amy; Jourdy, Yohann; Fretigny, Mathilde; Lienhart, Anne; Claeyssens, Ségolène; Ternisien, Catherine; Boisseau, Pierre; Rohrlich, Pierre‐Simon; Négrier, Claude; Vinciguerra, Christine Journal: Haemophilia Issue: Volume 26:Issue 5(2020) Page Start: 847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6. (16th August 2022) Authors: Jourdy, Yohann; Chatron, Nicolas; Fretigny, Mathilde; Dericquebourg, Amy; Sanlaville, Damien; Vinciguerra, Christine Journal: Journal of thrombosis and haemostasis Issue: Volume 20:Number 10(2022) Page Start: 2293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Abnormal bleeding phenotype for mild haemophilia B patients with the p.Ile112Thr variation on the gene for factor IX. Issue 4 (30th September 2020) Authors: Row, Céline; Chamouni, Pierre; Berger, Claire; Lienhart, Anne; Meunier, Sandrine; Fretigny, Mathilde; Dalibard, Vincent; Viprey, Marie; Chambost, Hervé; Barbay, Virginie; Bovet, Julien Journal: Haemophilia Issue: Volume 27:Issue 4(2021) Page Start: e462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Splicing analysis of 26 F8 nucleotide variations using a minigene assay. Issue 2 (28th January 2019) Authors: Jourdy, Yohann; Fretigny, Mathilde; Nougier, Christophe; Négrier, Claude; Bozon, Dominique; Vinciguerra, Christine Journal: Haemophilia Issue: Volume 25:Issue 2(2019) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. Issue 5 (May 2015) Authors: Nurden, Alan T.; Pillois, Xavier; Fiore, Mathieu; Alessi, Marie‐Christine; Bonduel, Mariana; Dreyfus, Marie; Goudemand, Jenny; Gruel, Yves; Benabdallah‐Guerida, Schéhérazade; Latger‐Cannard, Véronique; Négrier, Claude; Nugent, Diane; Oiron, Roseline d; Rand, Margaret L.; Sié, Pierre; Trossaert, M... Journal: Human mutation Issue: Volume 36:Issue 5(2015:May) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease. (17th November 2017) Authors: Penel-Page, Mathilde; Meunier, Sandrine; Fretigny, Mathilde; Le Quellec, Sandra; Boisseau, Pierre; Vinciguerra, Christine; Ternisien, Catherine; Rugeri, Lucia Journal: Platelets Issue: Volume 28:Number 8(2017) Page Start: 825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Issue 1 (4th September 2021) Authors: Jourdy, Yohann; Bardel, Claire; Fretigny, Mathilde; Diguet, Flavie; Rollat‐Farnier, Pierre‐Antoine; Mathieu, Marie‐Laure; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Vinciguerra, Christine; Schluth‐Bolard, Caroline Journal: Haemophilia Issue: Volume 28:Issue 1(2022) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗