Associated Papers
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
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
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
36652909 (PubMed )
Supplement: mmc3.xlsx › BrM92
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
A novel mutation (Leu60Pro) in a Chinese pedigree with hereditary factor XI deficiency.
Xie H et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021
Three dominant-negative mutations in factor XI-deficient patients.
Dai L et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Thrombin generation in patients with factor XI deficiency and clinical bleeding risk.
Rugeri L et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
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