Associated Papers
Understanding Congenital FXI Deficiency: Genetic Diagnosis and Correlation of Variant Detection Rate to Factor XI Activity.
Pezeshkpoor B et al.
Hamostaseologie, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Congenital factor XI deficiency and risk of heart failure in humans.
Lova A et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
[A new mutation associated with severe factor XI deficiency].
Payá I et al.
Medicina Clinica, 2023
A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.
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
Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.
Salloum-Asfar S et al.
Thrombosis Research, 2018
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.
Colakoglu S et al.
Blood Transfusion = Trasfusione Del Sangue, 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
Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation.
Kılıç SÇ et al.
Blood Transfusion = Trasfusione Del Sangue, 2014
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 seven novel mutations causing factor XI deficiency.
Zucker M et al.
Haematologica, 2007
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
Mitchell M et al.
Human Mutation, 2006