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
40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf
Rare bleeding disorders: Real-world data from a Spanish tertiary hospital.
Martínez-Carballeira D et al.
Blood Cells, Molecules & Diseases, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Concomitant hypofibrinogenemia and factor XI deficiency as rare cause of bleeding during urgent dentistry: case report and short review of the literature.
Sucker C et al.
Archive of Clinical Cases, 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
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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 762.297
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
Mitchell M et al.
Human Mutation, 2006
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