Associated Papers
A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.
Pshenichnikova O et al.
International Journal of Molecular Sciences, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 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
Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.
Srivastava V et al.
Biomolecules, 2025
DNA base editing corrects common hemophilia A mutations and restores factor VIII expression in in vitro and ex vivo models.
Tonetto E et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Mutational Profile in Romanian Patients with Hemophilia A.
Grigore A et al.
International Journal of Molecular Sciences, 2024
Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members.
Nguyen BST et al.
Journal of Clinical Pathology, 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
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
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.
Luu DV et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.
Janczar S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation.
Al-Allaf FA et al.
Acta Biochimica Polonica, 2019
Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.
Mason JA et al.
Molecular Genetics & Genomic Medicine, 2018
Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression.
Krøigård AB et al.
Plos One, 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
Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.
Lyu C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
First molecular analysis of F8 gene in algeria: identification of two novel mutations.
Abdi M et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Nair PS et al.
Plos One, 2014
Long-term anti-FVIII antibody response in Bethesda-negative haemophilia A patients receiving continuous replacement therapy.
Klintman J et al.
British Journal of Haematology, 2013
Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.
Gouw SC et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
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
Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.
Hill M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2005
Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A.
Ahmed RP et al.
Haematologica, 2005