Mathilde Frétigny

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the<i>ITGA2B</i>and<i>ITGB3</i>Genes in a Large International Cohort

Alan T. Nurden, Xavier Pillois, Mathieu Fiore et al. · Human Mutation · 2015 · 93 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Diagnosis and management challenges in patients with mild haemophilia A and discrepant <scp>FVIII</scp> measurements

Marc Trossaërt, Anne Lienhart, Christophe Nougier et al. · Haemophilia · 2014 · 51 citations

Medicine, Hematology, Hematology Physiology +16

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization

Yohann Jourdy, Alexandre Janin, Mathilde Frétigny et al. · The American Journal of Human Genetics · 2018 · 29 citations · Full text

Medicine, Genetics, Molecular Genetics +6

Splicing analysis of 26 <i>F8</i> nucleotide variations using a minigene assay

Yohann Jourdy, Mathilde Frétigny, Christophe Nougier et al. · Haemophilia · 2019 · 17 citations

Life Sciences, Genetics, Molecular Genetics +14

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Nicolas Chatron, Caroline Schluth‐Bolard, Mathilde Frétigny et al. · Journal of Thrombosis and Haemostasis · 2019 · 15 citations · Full text

Life Sciences, Genetics, Hematology +12