Associated Papers
Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.
Marszałek-Kruk BA et al.
Journal of Clinical Medicine, 2026
Fibrin-bound thrombin determines clot structure and blood thrombogenicity in normofibrinogenemia and dysfibrinogenemia.
Sun S et al.
Haematologica, 2026
Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.
Jaraskova D et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2025
Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.
Nóbrega T et al.
Journal of Thrombosis and Thrombolysis, 2025
Congenital Fibrinogen Deficiencies: Not So Rare.
Couzens A et al.
Hamostaseologie, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Pathogenic Mechanisms in Congenital Afibrinogenemia: A Systematic Review of Genetic Variants.
Li Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Fibrinogen genotypes and their impact on recurrence of venous thromboembolism and family history: A prospective population-based study.
Memon AA et al.
British Journal of Haematology, 2025
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Acquired von Willebrand syndrome secondary to monoclonal gammopathy: a single-center case series.
Van Thillo Q et al.
Therapeutic Advances in Hematology, 2025
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE et al.
Research and Practice in Thrombosis and Haemostasis, 2024
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Mohsenian S et al.
Blood Advances, 2024
Heterozygosity in factor XIII genes and the manifestation of mild inherited factor XIII deficiency.
Singh S et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.
Ramanan R et al.
British Journal of Haematology, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.
Couzens A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
A series of Polish patients with congenital fibrinogen disorders: 2 new mutations in fibrinogen gamma chain, Fibrinogen Kostrzyn and Fibrinogen Łódź II.
Weronska A et al.
Polish Archives of Internal Medicine, 2022
FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer.
Thibord F et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family.
Fager Ferrari M et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.
Paraboschi EM et al.
International Journal of Molecular Sciences, 2017
Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.
Ali SK et al.
Journal of Biomolecular Structure & Dynamics, 2017
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 2017
Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.
Casini A et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Congenital fibrinogen disorders: an update.
de Moerloose P et al.
Seminars in Thrombosis and Hemostasis, 2013
gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians.
Ivaskevicius V et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2005