Associated Papers
Fibrin-bound thrombin determines clot structure and blood thrombogenicity in normofibrinogenemia and dysfibrinogenemia.
Sun S et al.
Haematologica, 2026
Recurrent Venous Thrombosis in a Hypofibrinogenemic Patient Despite a Heterozygous Deletion of the Fibrinogen Gene Cluster and Hemizygous FGB p.Pro265Leu Variant Mimicking a Homozygous Genotype.
Punniyamoorthy S et al.
Hamostaseologie, 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
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
Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.
Ramanan R et al.
British Journal of Haematology, 2023
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
34829957 (PubMed )
Supplement: biomedicines-09-01728-s001.zip › biomedicines-1435333-sup2.pdf
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
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 comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Huffman JE et al.
Blood, 2015
Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).
Wassel CL et al.
Blood, 2011
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