Associated Papers
Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.
Teng Y et al.
Thrombosis Research, 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
Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.
Chen M et al.
International Journal of Molecular Sciences, 2025
Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A.
Yuan S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.
Khowal S et al.
Journal of Neuro-oncology, 2024
Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.
Liu Y et al.
Thrombosis and Haemostasis, 2023
Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China.
Zhang X et al.
Global Medical Genetics, 2023
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
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
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
Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?
Sasanakul W et al.
The Application of Clinical Genetics, 2022
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Genetic analysis of carrier status in female members of Japanese hemophilia families.
Shinozawa K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.
Feng Y 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
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
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.
Manderstedt E et al.
Plos One, 2019
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
F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.
Pinto P et al.
Mutation Research, 2016
Factor VIII gene variants and inhibitor risk in African American hemophilia A patients.
Gunasekera D et al.
Blood, 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
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
First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.
Elmahmoudi H et al.
Diagnostic Pathology, 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
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
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors.
Coppola A et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.
Venceslá A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Severe and moderate hemophilia A: identification of 38 new genetic alterations.
Casaña P et al.
Haematologica, 2008
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
Bogdanova N et al.
Human Mutation, 2007
Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.
Cai XH et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Immune tolerance induction with recombinant factor VIII in hemophilia A patients with high responding inhibitors.
Rocino A et al.
Haematologica, 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