Associated Papers
Understanding Congenital FXI Deficiency: Genetic Diagnosis and Correlation of Variant Detection Rate to Factor XI Activity.
Pezeshkpoor B et al.
Hamostaseologie, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Reinvestigation of unidentified causative variants in FXI-deficient patients: Focus on gene segment deletions.
De Mazancourt P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Anticoagulant therapy in patients with congenital FXI deficiency.
Bravo-Pérez C et al.
Blood Advances, 2021
Analysis of 272 Genetic Variants in the Upgraded Interactive FXI Web Database Reveals New Insights into FXI Deficiency.
Harris VA et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.
Salloum-Asfar S et al.
Thrombosis Research, 2018
High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.
Esteban J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Molecular characterization of FXI deficiency.
Berber E
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2011
Characterization of combined factor VII and factor XI deficiencies.
Quélin F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
Mitchell M et al.
Human Mutation, 2006