Associated Papers
Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Bandini P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
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
Missense and nonsense mutations and inhibitor development in patients with hemophilia A and B.
Karimi F et al.
Journal of Thrombosis and Thrombolysis, 2025
Analyzing 6211 unique variants in the upgraded interactive FVIII web database reveals novel insights into hemophilia A.
Print EHT et al.
Blood Vessels, Thrombosis & Hemostasis, 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
DDAVP response and its determinants in bleeding disorders: a systematic review and meta-analysis.
Laan S et al.
Blood, 2025
Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.
Srivastava V et al.
Biomolecules, 2025
Multiplex, multimodal mapping of variant effects in secreted proteins.
Popp NA et al.
Biorxiv : the Preprint Server for Biology, 2025
Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.
Chen M et al.
International Journal of Molecular Sciences, 2025
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.
Ho SKL et al.
American Journal of Medical Genetics. Part A, 2024
A factor IX variant that functions independently of factor VIII mitigates the hemophilia A phenotype in patient plasma.
Strijbis VJF et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Coagulation assay discrepancies in Japanese patients with non-severe hemophilia A.
Inaba H et al.
International Journal of Hematology, 2022
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Genome-Wide Association Study and Gene-Based Analysis of Participants With Hemophilia A and Inhibitors in the My Life, Our Future Research Repository.
Lessard S et al.
Frontiers in Medicine, 2022
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 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
Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.
Feng Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Different Clinical Phenotypes Caused by Three F8 Missense Mutations in Three Chinese Families with Moderate Hemophilia A.
Huang L et al.
Dna and Cell Biology, 2020
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
HLA-DRB1-factor VIII binding is a risk factor for inhibitor development in nonsevere hemophilia: a case-control study.
Kempton CL et al.
Blood Advances, 2018
Desmopressin in moderate hemophilia A patients: a treatment worth considering.
Loomans JI et al.
Haematologica, 2018
Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.
Suzuki S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.
Inaba H et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Treatment burden, haemostatic strategies and real world inhibitor screening practice in non-severe haemophilia A.
Batty P et al.
British Journal of Haematology, 2017
Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations.
Loomans JI et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
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
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
Santacroce R et al.
Thrombosis Research, 2015
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Nair PS et al.
Plos One, 2014
The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.
Rydz N et al.
American Journal of Hematology, 2013
Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.
Inaba H et al.
International Journal of Hematology, 2013
Significance of F8 missense mutations with respect to inhibitor formation.
Schwaab R et al.
Thrombosis and Haemostasis, 2013
Response to desmopressin is strongly dependent on F8 gene mutation type in mild and moderate haemophilia A.
Stoof SC et al.
Thrombosis and Haemostasis, 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
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
The natural history of mild haemophilia: a 30-year single centre experience.
Tagliaferri A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
[Contribution of genetic analysis in management of hemophilie patients].
Vinciguerra C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2010
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
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
Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.
Castaman G et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
Bogdanova N et al.
Human Mutation, 2007
Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods.
Rudzki Z et al.
British Journal of Haematology, 1996