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, Yohann, Frétigny, Mathilde, Lassalle, Fanny, Lillicrap, David, Négrier, Claude, Vinciguerra, Christine
Published in Journal of thrombosis and haemostasis (01.05.2020)
Published in Journal of thrombosis and haemostasis (01.05.2020)
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Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A
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
Published in Journal of thrombosis and haemostasis (01.06.2024)
Published in Journal of thrombosis and haemostasis (01.06.2024)
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Journal Article
Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing
Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann
Published in Journal of thrombosis and haemostasis (01.07.2019)
Published in Journal of thrombosis and haemostasis (01.07.2019)
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Journal Article
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination
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
Published in Clinical genetics (01.04.2023)
Published in Clinical genetics (01.04.2023)
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Algorithms using clinical and genetic data (CYP2C9, VKORC1) are relevant to predict warfarin dose in patients with different INR targets
Le Cam-Duchez, Véronique, Frétigny, Mathilde, Cailleux, Nicole, Gandelin, Catherine, Lévesque, Hervé, Borg, Jeanne-Yvonne
Published in Thrombosis research (01.09.2010)
Published in Thrombosis research (01.09.2010)
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Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease
Penel-Page, Mathilde, Meunier, Sandrine, Fretigny, Mathilde, Le Quellec, Sandra, Boisseau, Pierre, Vinciguerra, Christine, Ternisien, Catherine, Rugeri, Lucia
Published in Platelets (Edinburgh) (01.12.2017)
Published in Platelets (Edinburgh) (01.12.2017)
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The EHA Research Roadmap: Blood Coagulation and Hemostatic Disorders
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
Published in HemaSphere (01.10.2021)
Published in HemaSphere (01.10.2021)
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Journal Article
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination
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
Published in Clinical genetics (19.01.2023)
Published in Clinical genetics (19.01.2023)
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Journal Article
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6
Jourdy, Yohann, Chatron, Nicolas, Fretigny, Mathilde, Dericquebourg, Amy, Sanlaville, Damien, Vinciguerra, Christine
Published in Journal of thrombosis and haemostasis (01.10.2022)
Published in Journal of thrombosis and haemostasis (01.10.2022)
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Journal Article
Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients
Dericquebourg, Amy, Fretigny, Mathilde, Chatron, Nicolas, Tardy, Brigitte, Zawadzki, Christophe, Chambost, Hervé, Vinciguerra, Christine, Jourdy, Yohann
Published in Journal of thrombosis and haemostasis (01.04.2023)
Published in Journal of thrombosis and haemostasis (01.04.2023)
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Journal Article
Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients
Dericquebourg, Amy, Fretigny, Mathilde, Chatron, Nicolas, Tardy, Brigitte, Zawadzki, Christophe, Chambost, Hervé, Vinciguerra, Christine, Jourdy, Yohann
Published in Journal of thrombosis and haemostasis (01.04.2023)
Published in Journal of thrombosis and haemostasis (01.04.2023)
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Perinatal stroke and hypofibrinogenemia: Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state?
Marchi, Rita, Meunier, Sandrine, Rezigue, Hamdi, Fretigny, Mathilde, Alotaibi, Ssakher, Neerman-Arbez, Marguerite, de Mazancourt, Philippe, Casini, Alessandro
Published in Thrombosis research (01.09.2024)
Published in Thrombosis research (01.09.2024)
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Journal Article
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, Amy, Fretigny, Mathilde, Leuci, Alexandre, Zawadzki, Christophe, Huguenin, Yoann, Castet, Sabine‐Marie, Dargaud, Yesim, Vinciguerra, Christine, Jourdy, Yohann
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2023)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2023)
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Journal Article
Splicing analysis of 26 F8 nucleotide variations using a minigene assay
Jourdy, Yohann, Fretigny, Mathilde, Nougier, Christophe, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2019)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2019)
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Journal Article
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
Jourdy, Yohann, Fretigny, Mathilde, Lassalle, Fanny, Lillicrap, David, Negrier, Claude, Bouvagnet, Patrice, Vinciguerra, Christine
Published in Blood (29.11.2018)
Published in Blood (29.11.2018)
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Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency
Rezigue, Hamdi, Chamouni, Pierre, Fretigny, Mathilde, Barbay, Virginie, Le Cam‐Duchez, Véronique, Bobee, Victor, Lanne, Simon, Dumesnil, Cecile, Vinciguerra, Christine, Schneider, Pascale, Jourdy, Yohann
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2024)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2024)
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Journal Article
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization
Jourdy, Yohann, Janin, Alexandre, Fretigny, Mathilde, Lienhart, Anne, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine
Published in American journal of human genetics (01.02.2018)
Published in American journal of human genetics (01.02.2018)
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Abnormal bleeding phenotype for mild haemophilia B patients with the p.Ile112Thr variation on the gene for factor IX
Row, Céline, Chamouni, Pierre, Berger, Claire, Lienhart, Anne, Meunier, Sandrine, Fretigny, Mathilde, Dalibard, Vincent, Viprey, Marie, Chambost, Hervé, Barbay, Virginie, Bovet, Julien
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2021)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2021)
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Journal Article
Identification of new F8 deep intronic variations in patients with haemophilia A
Dericquebourg, Amy, Jourdy, Yohann, Fretigny, Mathilde, Lienhart, Anne, Claeyssens, Ségolène, Ternisien, Catherine, Boisseau, Pierre, Rohrlich, Pierre‐Simon, Négrier, Claude, Vinciguerra, Christine
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2020)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2020)
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Journal Article
Expanding the Mutation Spectrum Affecting alpha IIb beta 3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort
Nurden, Alan T, Pillois, Xavier, Fiore, Mathieu, Alessi, Marie-Christine, Bonduel, Mariana, Dreyfus, Marie, Goudemand, Jenny, Gruel, Yves, Benabdallah-Guerida, Scheherazade, Latger-Cannard, Veronique, Negrier, Claude, Nugent, Diane, Oiron, Roseline d, Rand, Margaret L, Sie, 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
Published in Human mutation (01.05.2015)
Published in Human mutation (01.05.2015)
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