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
Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.
Srivastava V et al.
Biomolecules, 2025
Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.
Chen M et al.
International Journal of Molecular Sciences, 2025
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
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
Cryptogenic oozers and bruisers.
Smock KJ et al.
Hematology. American Society of Hematology. Education Program, 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
Clinical pattern of hemophilia and causes of variability.
Mingot-Castellano ME
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2019
In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies.
Pezeshkpoor B et al.
Annals of Hematology, 2019
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
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
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
Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N.
Allan JN et al.
International Journal of Hematology, 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
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
Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity.
Trossaërt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
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
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