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
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
Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.
Srivastava V et al.
Biomolecules, 2025
DNA base editing corrects common hemophilia A mutations and restores factor VIII expression in in vitro and ex vivo models.
Tonetto E et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Mutational Profile in Romanian Patients with Hemophilia A.
Grigore A et al.
International Journal of Molecular Sciences, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.
Yang C et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.
Pshenichnikova O et al.
Genes, 2023
Prolonged α-thrombin-related activation and delayed active protein C-associated degradation confer mild phenotype in a patient with severe hemophilia A with F8 p.H118R.
Miyashita R 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
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.
Lombardi S et al.
American Journal of Human Genetics, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 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
Hsa-miR-5581-3p and Hsa-miR-542-3p Target the F8 Gene in Hemophilia A without F8 Mutations.
Meng F
Mediterranean Journal of Hematology and Infectious Diseases, 2021
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.
Luo X et al.
Frontiers in Immunology, 2021
Hemophilia management: Huge impact of a tiny difference.
Kloosterman F et al.
Research and Practice in Thrombosis and Haemostasis, 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
Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts.
Lassalle F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
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
Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.
Donadon I et al.
Haematologica, 2018
Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene.
Castaman G
Haematologica, 2018
Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.
Guo Z et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect.
Garagiola I et al.
Molecular Genetics & Genomic Medicine, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
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
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
Mutation analysis of factor VIII in Korean patients with severe hemophilia A.
You CW et al.
International Journal of Hematology, 2010
Haemophilia A mutations in the UK: results of screening one-third of the population.
Green PM et al.
British Journal of Haematology, 2008
The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A.
Ma GC et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.
Rossetti LC et al.
Haematologica, 2007
[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].
Tokarev IuN et al.
Problemy Gematologii I Perelivaniia Krovi, 1977