Publications by authors named "Mathilde Fretigny"

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Perinatal stroke and hypofibrinogenemia: Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state?
Rita Marchi, Sandrine Meunier, Hamdi Rezigue, Mathilde Fretigny, Ssakher Alotaibi

Thromb Res· September 2024

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Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency.
Hamdi Rezigue, Pierre Chamouni, Mathilde Fretigny, Virginie Barbay, Véronique Le Cam-Duchez

Haemophilia· July 2024

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Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A.
Yohann Jourdy, Nicolas Chatron, Mathilde Frétigny, Christophe Zawadzki, Anne Lienhart

J Thromb Haemost· June 2024

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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.
Amy Dericquebourg, Mathilde Fretigny, Alexandre Leuci, Christophe Zawadzki, Yoann Huguenin

Haemophilia· September 2023

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Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont

Clin Genet· April 2023

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Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients.
Amy Dericquebourg, Mathilde Fretigny, Nicolas Chatron, Brigitte Tardy, Christophe Zawadzki

J Thromb Haemost· April 2023

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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.
Yohann Jourdy, Nicolas Chatron, Mathilde Fretigny, Amy Dericquebourg, Damien Sanlaville

J Thromb Haemost· October 2022

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Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
Yohann Jourdy, Claire Bardel, Mathilde Fretigny, Flavie Diguet, Pierre-Antoine Rollat-Farnier

Haemophilia· January 2022

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The EHA Research Roadmap: Blood Coagulation and Hemostatic Disorders.
Sabine Eichinger, Pierre E Morange, Marco Cattaneo, Mathilde Fretigny, Antoine Rauch

Hemasphere· October 2021

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Abnormal bleeding phenotype for mild haemophilia B patients with the p.Ile112Thr variation on the gene for factor IX.
Céline Row, Pierre Chamouni, Claire Berger, Anne Lienhart, Sandrine Meunier, Mathilde Fretigny

Haemophilia· July 2021

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Identification of new F8 deep intronic variations in patients with haemophilia A.
Amy Dericquebourg, Yohann Jourdy, Mathilde Fretigny, Anne Lienhart, Ségolène Claeyssens

Haemophilia· September 2020

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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.
Yohann Jourdy, Mathilde Frétigny, Fanny Lassalle, David Lillicrap, Claude Négrier

J Thromb Haemost· May 2020

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Molecular analysis of eight severe FV-deficient patients in Pakistan: A large series of homozygous for frameshift mutations.
Munira Borhany, Alexandre Ranc, Mathilde Fretigny, Grégory Moulis, Madiha Abid

Haemophilia· July 2019

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Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing.
Nicolas Chatron, Caroline Schluth-Bolard, Mathilde Frétigny, Audrey Labalme, Gaëlle Vilchez

J Thromb Haemost· July 2019

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

Haemophilia· March 2019

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Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.
Yohann Jourdy, Alexandre Janin, Mathilde Fretigny, Anne Lienhart, Claude Négrier

Am J Hum Genet· February 2018

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Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.
Mathilde Penel-Page, Sandrine Meunier, Mathilde Fretigny, Sandra Le Quellec, Pierre Boisseau

Platelets· December 2017

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Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Alan T Nurden, Xavier Pillois, Mathieu Fiore, Marie-Christine Alessi, Mariana Bonduel, Mathilde Fretigny

Hum Mutat· May 2015

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Algorithms using clinical and genetic data (CYP2C9, VKORC1) are relevant to predict warfarin dose in patients with different INR targets.
Véronique Le Cam-Duchez, Mathilde Frétigny, Nicole Cailleux, Catherine Gandelin, Hervé Lévesque

Thromb Res· September 2010

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