Associated Papers
Genomic ancestry, F8 variants, and immune tolerance in hemophilia A patients with inhibitors: exome sequencing insights.
Sant'Anna H et al.
Haematologica, 2026
Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.
Zuccherato LW et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Thrombotic risk determined by ABO, F8, and VWF variants in a population-based cohort study.
Manderstedt E et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing.
Pardos-Gea J et al.
International Journal of Molecular Sciences, 2023
Race, ethnicity, F8 variants, and inhibitor risk: analysis of the "My Life Our Future" hemophilia A database.
Ahmed AE et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Molecular classification of blood and bleeding disorder genes.
Baz B et al.
Npj Genomic Medicine, 2021
Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.
Mosaad RM et al.
Molecular Genetics & Genomic Medicine, 2021
Genetics and Hemostatic Potential in Persons with Mild to Moderate Hemophilia A with a Discrepancy between One-Stage and Chromogenic FVIII Assays.
Strålfors A et al.
Thrombosis and Haemostasis, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
Blood coagulation factor VIII D1241E polymorphism leads to a weak malectin interaction and reduction of factor VIII posttranslational modification and secretion.
Jiang N et al.
Experimental Cell Research, 2020
Inhibitor epidemiology and genetic-related risk factors in people with haemophilia from Côte d'Ivoire.
Lambert C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020
Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation.
Al-Allaf FA et al.
Acta Biochimica Polonica, 2019
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.
Owaidah T et al.
Npj Genomic Medicine, 2019
Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.
Spena S et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Identification of a novel mutation in the factor VIII gene causing severe haemophilia A.
Nissen SK et al.
Bmc Hematology, 2018
Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female.
Barge L et al.
Journal of Pediatric Hematology/oncology, 2017
Principles of genetic variations and molecular diseases: applications in hemophilia A.
Lannoy N et al.
Critical Reviews in Oncology/hematology, 2016
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Huffman JE et al.
Blood, 2015
Long-term treatment course of a patient with mild haemophilia A who developed a high titre factor VIII inhibitor.
Iioka F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
First molecular analysis of F8 gene in algeria: identification of two novel mutations.
Abdi M et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014
Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients.
Lochan A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.
Pahl S et al.
Thrombosis and Haemostasis, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.
Rosset C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.
Seo JY et al.
Blood Research, 2013
Origin of Swedish hemophilia A mutations.
Halldén C et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
Incidental finding of a common polymorphism (Asp1260Glu) and a previously unreported mutation of factor VIII (Asp588Val), resulting in moderate haemophilia A.
Williams V et al.
Pathology, 2012
F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.
Silva Pinto C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.
Bowyer AE et al.
British Journal of Haematology, 2011
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.
Riccardi F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Genetic analysis of haemophilia A in Taiwan.
Chen YC et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Severe and moderate hemophilia A: identification of 38 new genetic alterations.
Casaña P et al.
Haematologica, 2008
Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.
Sanna V et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.
Djambas Khayat C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Variation in 24 hemostatic genes and associations with non-fatal myocardial infarction and ischemic stroke.
Smith NL et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.
Repessé Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2007