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
Comparing one stage, chromogenic assay results and discrepancies with bleeding phenotype and genetic variants in females with hemophilia A.
Srivaths L et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.
Marco-Rico A et al.
Journal of Blood Medicine, 2025
Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.
Liu Y et al.
Thrombosis and Haemostasis, 2023
Trisomy X conferring moderate hemophilia A by extremely skewed X-chromosome inactivation.
Shinozawa K et al.
Research and Practice in Thrombosis and Haemostasis, 2023
Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.
Pshenichnikova O et al.
Genes, 2023
Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.
Li F et al.
Frontiers in Genetics, 2023
Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays.
Valikhani A et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021
Genetic analysis of carrier status in female members of Japanese hemophilia families.
Shinozawa K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan.
Shinozawa K et al.
Thrombosis and Haemostasis, 2021
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
Atik T et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020
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
A case of moderate haemophilia A with inhibitor, carrying the p.R1800H mutation, complicated with juvenile idiopathic arthritis.
Kondo Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
A decreased and less sustained desmopressin response in hemophilia A carriers contributes to bleeding.
Candy V et al.
Blood Advances, 2018
FVIII p.Arg1800His mutation is associated with mild/moderate hemophilia A in Chinese population.
Wang X et al.
International Journal of Laboratory Hematology, 2018
Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.
Lyu C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Factor VIII Antigen, Activity, and Mutations in Hemophilia A.
Nair PS et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2016
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
Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.
Zimmermann MA et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
Molecular mechanisms underlying hemophilia A phenotype in seven females.
Pavlova A et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Severe and moderate hemophilia A: identification of 38 new genetic alterations.
Casaña P et al.
Haematologica, 2008
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
Lin SY et al.
Bmc Medical Genetics, 2008
Detection of factor VIII gene mutations by high-resolution melting analysis.
Laurie AD et al.
Clinical Chemistry, 2007
Effects of 7 hemoglobin variants on the measurement of glycohemoglobin by 14 analytical methods.
Lee ST et al.
Clinical Chemistry, 2007
The molecular aetiology of haemophilia A in a New Zealand patient group.
Laurie AD et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007