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
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Ikbal Atli E et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
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
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
Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family.
Hançer VS et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2018
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
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Successful treatment of a lung cancer patient with factor XI deficiency.
Yamagishi T et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.
Asselta R et al.
Blood, 2010
Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis.
Duncan EM et al.
Pathology, 2008
Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations.
Castaman G et al.
Haematologica, 2008
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
Guella I et al.
Thrombosis and Haemostasis, 2008
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
Mitchell M et al.
Human Mutation, 2006
Fletcher Factor Deficiency.
Dündar S
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2002