Associated Papers
Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.
Ren J et al.
Human Genetics, 2026
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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
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
Congenital factor XI deficiency and risk of heart failure in humans.
Lova A et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
37014641 (PubMed )
Supplement: jamanetwopen-e236537-s001.pdf
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
A Case Series of Pediatric Intestinal Ganglioneuromatosis With Novel Phenotypic and Genotypic Profile.
Fang Y et al.
Frontiers in Medicine, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
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
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
Mitchell M et al.
Human Mutation, 2006
Select a paper to view details