Associated Papers
Understanding Congenital FXI Deficiency: Genetic Diagnosis and Correlation of Variant Detection Rate to Factor XI Activity.
Pezeshkpoor B et al.
Hamostaseologie, 2025
Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian Cohort.
Santacroce R et al.
International Journal of Molecular Sciences, 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
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
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
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families.
Dorgalaleh A et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2019
Molecular investigation of 41 patients affected by coagulation factor XI deficiency.
Rimoldi V et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.
Martin-Fernandez L et al.
Plos One, 2017
Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.
Tiscia GL et al.
Human Genome Variation, 2017
Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation.
Bicocchi MP et al.
European Journal of Haematology, 2013
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
Characterization of seven novel mutations causing factor XI deficiency.
Zucker M et al.
Haematologica, 2007