The EHA Research Roadmap: Blood Coagulation and Hemostatic Disorders von Eichinger, Sabine, Morange, Pierre E., Cattaneo, Marco, Fretigny, Mathilde, Rauch, Antoine, Hylckama Vlieg, Astrid, Trégouët, David‐Alexandre, Ruf, Wolfram, Levi, Marcel, Páramo, José A., Poll, Tom, Kyrle, Paul A., Garagiola, Isabella, Peyvandi, Flora

Volltext

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 von Jourdy, Yohann, Frétigny, Mathilde, Lassalle, Fanny, Lillicrap, David, Négrier, Claude, Vinciguerra, Christine

Volltext

Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A von Jourdy, Yohann, Chatron, Nicolas, Frétigny, Mathilde, Zawadzki, Christophe, Lienhart, Anne, Stieltjes, Natalie, Rohrlich, Pierre-Simon, Thauvin-Robinet, Christel, Volot, Fabienne, Hamida, Yasmine Ferhat, Hariti, Ghania, Leuci, Alexandre, Dargaud, Yesim, Sanlaville, Damien, Vinciguerra, Christine

Volltext

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing von Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann

Volltext

Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6 von Jourdy, Yohann, Chatron, Nicolas, Fretigny, Mathilde, Dericquebourg, Amy, Sanlaville, Damien, Vinciguerra, Christine

Volltext

Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients von Dericquebourg, Amy, Fretigny, Mathilde, Chatron, Nicolas, Tardy, Brigitte, Zawadzki, Christophe, Chambost, Hervé, Vinciguerra, Christine, Jourdy, Yohann

Volltext

Perinatal stroke and hypofibrinogenemia: Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state? von Marchi, Rita, Meunier, Sandrine, Rezigue, Hamdi, Fretigny, Mathilde, Alotaibi, Ssakher, Neerman-Arbez, Marguerite, de Mazancourt, Philippe, Casini, Alessandro

Volltext

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination von Masson, Julie, Pebrel‐Richard, Céline, Egloff, Matthieu, Frétigny, Mathilde, Beaumont, Marion, Uguen, Kevin, Rollat‐Farnier, Pierre‐Antoine, Diguet, Flavie, Perthus, Isabelle, Le Gudayer, Gwenaël, Haye, Damien, Dupeyron, Marie‐Noëlle Bonnet, Putoux, Audrey, Raskin‐Champion, Fabienne, Till, Marianne, Chatron, Nicolas, Doray, Bérénice, Bardel, Claire, Vinciguerra, Christine, Sanlaville, Damien, Schluth‐Bolard, Caroline

Volltext

Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A von Dericquebourg, Amy, Fretigny, Mathilde, Leuci, Alexandre, Zawadzki, Christophe, Huguenin, Yoann, Castet, Sabine‐Marie, Dargaud, Yesim, Vinciguerra, Christine, Jourdy, Yohann

Volltext

Splicing analysis of 26 F8 nucleotide variations using a minigene assay von Jourdy, Yohann, Fretigny, Mathilde, Nougier, Christophe, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine

Volltext

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization von Jourdy, Yohann, Janin, Alexandre, Fretigny, Mathilde, Lienhart, Anne, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine

Volltext

The Highly Prevalent Deletions in F8 Intron 13 Found in French Mild Haemophilia a Patients Result of Both Founder Effect and Recurrent De Novo Events von Jourdy, Yohann, Fretigny, Mathilde, Lassalle, Fanny, Lillicrap, David, Negrier, Claude, Bouvagnet, Patrice, Vinciguerra, Christine

Volltext

Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency von Rezigue, Hamdi, Chamouni, Pierre, Fretigny, Mathilde, Barbay, Virginie, Le Cam‐Duchez, Véronique, Bobee, Victor, Lanne, Simon, Dumesnil, Cecile, Vinciguerra, Christine, Schneider, Pascale, Jourdy, Yohann

Volltext

Abnormal bleeding phenotype for mild haemophilia B patients with the p.Ile112Thr variation on the gene for factor IX von Row, Céline, Chamouni, Pierre, Berger, Claire, Lienhart, Anne, Meunier, Sandrine, Fretigny, Mathilde, Dalibard, Vincent, Viprey, Marie, Chambost, Hervé, Barbay, Virginie, Bovet, Julien

Volltext

Identification of new F8 deep intronic variations in patients with haemophilia A von Dericquebourg, Amy, Jourdy, Yohann, Fretigny, Mathilde, Lienhart, Anne, Claeyssens, Ségolène, Ternisien, Catherine, Boisseau, Pierre, Rohrlich, Pierre‐Simon, Négrier, Claude, Vinciguerra, Christine

Volltext

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort von 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, Marc, Alberio, Lorenzo, Martins, Nathalie, Sirvain-Trukniewicz, Peggy, Couloux, Arnaud, Canault, Mathias, Fronthroth, Juan Pablo, Fretigny, Mathilde, Nurden, Paquita, Heilig, Roland, Vinciguerra, Christine

Volltext

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

Volltext

Molecular analysis of eight severe FV‐deficient patients in Pakistan: A large series of homozygous for frameshift mutations von Borhany, Munira, Ranc, Alexandre, Fretigny, Mathilde, Moulis, Grégory, Abid, Madiha, Shamsi, Tahir, Giansily‐Blaizot, Muriel

Volltext

five Int22h Homologous Copies in Association with Intron22 Inversion Type 3 von Lannoy, Nathalie, Ravoet, Marie, Grisart, Bernard, Fretigny, Mathilde, Hermans, Cedric R.

Volltext

High-Throughput Genotyping of Haemophilia A and B Using Next-Generation Sequencing Technology in Lille University Hospital von Lassalle, Fanny, Rauch, Antoine, Wibaut, Benedicte, Vinciguerra, Christine, Fretigny, Mathilde, Vaast, Bertrand, Gomanne, Valerie, Susen, Sophie, Goudemand, Jenny, Zawadzki, Christophe

Volltext