Associated Papers
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
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 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
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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
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
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
Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran.
Dorgalaleh A et al.
Hematology (amsterdam, Netherlands), 2017
Point mutations regarded as missense mutations cause splicing defects in the factor XI gene.
Zucker M et al.
Journal of Thrombosis and Haemostasis : Jth, 2011