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
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
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
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
Applicability of the Thrombin Generation Test to Evaluate the Hemostatic Status of Hemophilia A Patients in Daily Clinical Practice.
Bernardo Á et al.
Journal of Clinical Medicine, 2022
Coagulation assay discrepancies in Japanese patients with non-severe hemophilia A.
Inaba H et al.
International Journal of Hematology, 2022
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
Impact of variation in reagent combinations for one-stage clotting assay on assay discrepancy in nonsevere haemophilia A.
Suzuki A et al.
International Journal of Laboratory Hematology, 2021
TWIN BROTHERS WITH VARIABLE PHENOTYPES OF HAEMOPHILIA A RESULTING FROM MATERNAL MOSAICISM OF ARG550CYS OF F8.
Cui D et al.
Journal of Paediatrics and Child Health, 2021
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 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
Desmopressin in moderate hemophilia A patients: a treatment worth considering.
Loomans JI et al.
Haematologica, 2018
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
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
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
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
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
Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.
Inaba H et al.
International Journal of Hematology, 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
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
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
Importance of investigating somatic and germline mutations in hemophilia A: a preliminary study from All India Institute of Medical Sciences, India.
Ranjan R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation.
Cid AR et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A.
Ahmed RP et al.
Haematologica, 2005
Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.
Ivaskevicius V et al.
British Journal of Haematology, 2001