Associated Papers
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
Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.
Guillet B et al.
Thrombosis and Haemostasis, 2024
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO et al.
The New England Journal of Medicine, 2023
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
Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.
Li F et al.
Frontiers in Genetics, 2023
Genetics and Hemostatic Potential in Persons with Mild to Moderate Hemophilia A with a Discrepancy between One-Stage and Chromogenic FVIII Assays.
Strålfors A et al.
Thrombosis and Haemostasis, 2021
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
Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers.
Hudecova I et al.
Blood, 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
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?
Lannoy N et al.
Thrombosis Research, 2015
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
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
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
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
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
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Bogdanova N et al.
Human Mutation, 2002
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Bogdanova N et al.
Human Mutation, 2001