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
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
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
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
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
Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.
Guillet B et al.
Thrombosis and Haemostasis, 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
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
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
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
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy 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
Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.
Manderstedt E et al.
Research and Practice in Thrombosis and Haemostasis, 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
FVIII Immunogenicity-Bioinformatic Approaches to Evaluate Inhibitor Risk in Non-severe Hemophilia A.
Hart DP
Frontiers in Immunology, 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
Factor VIII cross-matches to the human proteome reduce the predicted inhibitor risk in missense mutation hemophilia A.
Hart DP et al.
Haematologica, 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
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
Origin of mutation in sporadic cases of severe haemophilia A in Sweden.
Mårtensson A et al.
Clinical Genetics, 2016
Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.
Bastida JM et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.
Jourdy Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).
Trampuš Bakija A et al.
Blood Transfusion = Trasfusione Del Sangue, 2015
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
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
Factor VIII mutation and desmopressin-responsiveness in 62 patients with mild haemophilia A.
Nance D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Spectrum of F8 gene mutations in haemophilia A patients from Slovenia.
Debeljak M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
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
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
[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
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
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
DNA microarray analysis for the detection of mutations in hemophilia A.
Berber E et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
[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