Associated Papers
F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A.
Lim MY et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
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
Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.
Chen M et al.
International Journal of Molecular Sciences, 2025
Mutational Profile in Romanian Patients with Hemophilia A.
Grigore A et al.
International Journal of Molecular Sciences, 2024
De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.
Chen M et al.
International Journal of Molecular Sciences, 2024
Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.
Pshenichnikova O et al.
Genes, 2023
Coagulation assay discrepancies in Japanese patients with non-severe hemophilia A.
Inaba H et al.
International Journal of Hematology, 2022
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
Spectrum and origin of mutations in sporadic cases of haemophilia A in China.
Lu Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China.
Sun P et al.
Genetics and Molecular Research : Gmr, 2015
Diagnosis and management challenges in patients with mild haemophilia A and discrepant FVIII measurements.
Trossaert M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Nair PS 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
Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.
Inaba H et al.
International Journal of Hematology, 2013
Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.
Lannoy N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.
Gouw SC et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects.
Xue F et al.
European Journal of Haematology, 2010
Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A.
Michaelides K et al.
Thrombosis and Haemostasis, 2006
Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.
Hill M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2005
Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.
Ivaskevicius V et al.
British Journal of Haematology, 2001