Associated Papers
Overview on Rare Congenital Bleeding Disorders and Epidemiological Data from the German Haemophilia Registry (DHR) and a Survey in Germany, Austria, and Switzerland.
Holstein K et al.
Hamostaseologie, 2025
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
A thrombophilic allele of clotting Factor VII/VIIa promoting recurrent pulmonary emboli, clinical details, and a structural model of the altered protein: a case report.
Newman K et al.
Journal of Medical Case Reports, 2023
Thromboelastometry as an Ancillary Tool for Evaluation of Coagulation Status after rFVIIa Therapy in a Pregnant Woman with Severe Hypoproconvertinemia-A Case Series and Review of the Literature.
Krzyżanowski A et al.
International Journal of Environmental Research and Public Health, 2022
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
Rare Defects: Looking at the Dark Face of the Thrombosis.
D'Andrea G et al.
International Journal of Environmental Research and Public Health, 2021
Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln.
Girolami A et al.
Acta Haematologica, 2021
African and African-American Contribution to the Knowledge of the FVII Padua (Arg304Gln) Defect.
Girolami A et al.
Journal of the National Medical Association, 2020
Factor VII deficiency - an enigma; clinicohematological profile in 12 cases.
Tripathi P et al.
Hematology (amsterdam, Netherlands), 2019
Direct oral anticoagulants for atrial fibrillation in patients with congenital factor VII deficiency.
Arletti L et al.
European Journal of Haematology, 2019
Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications
Shahbazi S et al.
Iranian Biomedical Journal, 2019
Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery.
Girolami A et al.
Cardiovascular & Hematological Disorders Drug Targets, 2019
Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency.
Andersen E et al.
Thrombosis and Haemostasis, 2018
Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.
S S et al.
Balkan Journal of Medical Genetics : Bjmg, 2017
Factor VII Deficiency: From Basics to Clinical Laboratory Diagnosis and Patient Management.
Sevenet PO et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017
Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy.
Napolitano M et al.
Journal of Clinical Medicine, 2017
[Genetic analysis of a pedigree with hereditary coagulation factor Ⅶ deficiency].
Jin Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
Conformational Changes of Congenital FVII Variants with Defective Binding to Tissue Factor ARG304GLN (FVII Padua), ARG 304TRP (FVII Nagoya) and ARG79GLN (FVII Shinjo or Tondabayashi).
Cristiani A et al.
International Journal of Biomedical Science : Ijbs, 2013
Homozygous FVII deficiencies with different reactivity towards tissue thromboplastins of different origin.
Girolami A et al.
Hematology (amsterdam, Netherlands), 2012
Is the coexistence of thromboembolic events and Factor VII deficiency fortuitous?
Giansily-Blaizot M et al.
Thrombosis Research, 2012
Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia.
Elmahmoudi H et al.
Diagnostic Pathology, 2012
[Significant decrease in factor VII activity by tissue thromboplastin derived from rabbit brain in a patient with congenital factor VII deficiency (FVII Padua)].
Sekiya A et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2012
Congenital FVII deficiency and thrombotic events after replacement therapy.
Girolami A et al.
Journal of Thrombosis and Thrombolysis, 2011
Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes.
Girolami A et al.
Hematology (amsterdam, Netherlands), 2011
Arg 304 Gln (FVII Padua) and Ala 294 Val mutations are equally present in patients with FVII deficiency and thrombosis.
Girolami A et al.
European Journal of Haematology, 2011
A retrospective analysis of 157 surgical procedures performed without replacement therapy in 83 unrelated factor VII-deficient patients.
Benlakhal F et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Similarities and discrepancies in homozygous factor VII defects due to mutations in the region of residues Met298 to Cys310 (exon 8) in the catalytic domain of factor VII.
Girolami A et al.
Laboratory Hematology : Official Publication of the International Society for Laboratory Hematology, 2011
Worldwide diffusion of FVII Arg304Gln coagulation defect (FVII Padua).
Girolami A et al.
European Journal of Haematology, 2011
Asymptomatic factor VII deficiency: gene analysis and structure-function relationships.
Kirkel D et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2010
Ox brain versus rabbit brain thromboplastin assays are the best tool for a preliminary diagnosis of the Arg304Gln factor VII defect (FVII Padua).
Girolami A et al.
Acta Haematologica, 2010
Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation.
Landau D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.
Herrmann FH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V.
Herrmann FH et al.
Haematologica, 2008
Characterization of combined factor VII and factor XI deficiencies.
Quélin F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Asymptomatic factor VII deficiency in African Americans.
Pollak ES et al.
American Journal of Clinical Pathology, 2006
Of four mutations in the factor VII gene in Tunisian patients, one novel mutation (Ser339Phe) in three unrelated families abrogates factor X activation.
Fromovich-Amit Y et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2005
Clinical phenotypes and factor VII genotype in congenital factor VII deficiency.
Mariani G et al.
Thrombosis and Haemostasis, 2005
The P303T mutation in the human factor VII (FVII) gene alters the conformational state of the enzyme and causes a severe functional deficiency.
Peyvandi F et al.
British Journal of Haematology, 2004
Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s).
Furlan Freguia C et al.
Haematologica, 2004
Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients.
Fromovich-Amit Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?
Giansily-Blaizot M et al.
Haematologica, 2004
The Gly331Ser mutation in factor VII in Europe and the Middle East.
Etro D et al.
Haematologica, 2003
Comparison among natural (Arg304Gln, Arg304Trp) and artificial (Arg290His, Arg290Lys) mutations in coagulation factor VII loops.
Furlan Freguia C et al.
Journal of Thrombosis and Haemostasis : Jth, 2003
[Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp].
Ding QL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients.
Rodrigues DN et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2003
Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.
Ferrer-Costa C et al.
Journal of Molecular Biology, 2002
Autosomal recessive deficiencies of coagulation factors.
Peyvandi F et al.
Reviews in Clinical and Experimental Hematology, 2001
Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients.
Shen MC et al.
British Journal of Haematology, 2001
Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency.
Peyvandi F et al.
Thrombosis and Haemostasis, 2000