Associated Papers
Clinical, Laboratory, and Molecular Aspects of Factor VII Deficiency.
Bernardi F et al.
Seminars in Thrombosis and Hemostasis, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity.
Preisler B et al.
International Journal of Molecular Sciences, 2024
Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency.
Pshenichnikova O et al.
Genes, 2023
Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.
Alesci RS et al.
Frontiers in Medicine, 2023
A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.
Hu YN et al.
The Journal of Gene Medicine, 2022
The EAHAD blood coagulation factor VII variant database.
Giansily-Blaizot M et al.
Human Mutation, 2020
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Saes JL et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Two new double mutant alleles of the F7 gene and a literature review on alleles with two mutations in FVII deficiency.
Giansily-Blaizot M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.
Pavlova A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.
Branchini A et al.
Haematologica, 2012
The paradoxical association between inherited factor VII deficiency and venous thrombosis.
Marty S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008