Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation

Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications

(2016) Yessine Amri et al.   CLINICA CHIMICA ACTA

Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state

(2016) Jingyi Zhou et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Can the phenotype of inherited fibrinogen disorders be predicted?

(2016) A. Casini et al.   HAEMOPHILIA

Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders

(2016) Philippe de Moerloose et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Clinical Features and Management of Congenital Fibrinogen Deficiencies

(2016) Philippe de Moerloose et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Exon skipping and aberrant signal peptide cleavage produce novel fibrinogen with an Aα chain lacking the first 42 residues

(2016) Andrew D. Laurie et al.   THROMBOSIS AND HAEMOSTASIS

Novel fibrinogen mutations (Aα17Gly→Cys and Aα381Ser→Phe) occurring with a 312Thr→Ala polymorphism

(2015) Stephen O. Brennan et al.   BLOOD COAGULATION & FIBRINOLYSIS

Novel heterozygous dysfibrinogenemia, Sumida (AαC472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels

(2015) Minami Ikeda et al.   THROMBOSIS RESEARCH

Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations

(2015) Giancarlo Castaman et al.   THROMBOSIS RESEARCH

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

(2015) Rosanna Asselta et al.   THROMBOSIS RESEARCH

Differences in the function and secretion of congenital aberrant fibrinogenemia between heterozygous γD320G (Okayama II) and γΔN319-ΔD320 (Otsu I)

(2015) Saki Mukai et al.   THROMBOSIS RESEARCH

Natural history of patients with congenital dysfibrinogenemia

(2014) A. Casini et al.   BLOOD

Recombinant γT305A fibrinogen indicates severely impaired fibrin polymerization due to the aberrant function of hole ‘a’ and calcium binding sites

(2014) Minami Ikeda et al.   THROMBOSIS RESEARCH

Functionally compromised FGG variant (γ320Asp→Glu) expressed at low level in plasma fibrinogen

(2014) Stephen O. Brennan et al.   THROMBOSIS RESEARCH

Rare Bleeding Disorders: Worldwide Efforts for Classification, Diagnosis, and Management

(2013) Marzia Menegatti et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Hypodysfibrinogenaemia and thrombosis in association with a new fibrinogen γ chain with two mutations (γ114Tyr→His, and γ320Asp deleted)

(2013) Meera Chitlur et al.   THROMBOSIS AND HAEMOSTASIS

Benign FGB (148Lys→Asn, and 448Arg→Lys), and novel causative γ211Tyr→His mutation distinguished by time of flight mass spectrometry in a family with hypofibrinogenaemia

(2013) Hilda Mangos et al.   THROMBOSIS AND HAEMOSTASIS

Fibrinogen Melbourne

(2012) Chan Y. Cheah et al.   BLOOD COAGULATION & FIBRINOLYSIS

Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders

(2012) F. PEYVANDI et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Fibrinogen residue γAla341 is necessary for calcium binding and ‘A-a’ interactions

(2012) Lifang Ping et al.   THROMBOSIS AND HAEMOSTASIS

Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemia

(2012) Xiaodong Xi et al.   THROMBOSIS AND HAEMOSTASIS

Novel management of anticoagulant resistant thrombotic hypodysfibrinogenaemia

(2012) C. Rea et al.   THROMBOSIS RESEARCH

Rare deletion from the fibrinogen Bβ gene in a patient with a provoked venous thrombotic event

(2011) Yu-Min Shen et al.   BLOOD COAGULATION & FIBRINOLYSIS

The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (A Cys36Gly, A Cys36Arg and A Cys45Tyr) confirms the role of N-terminal A  disulfide bonds in protein assembly and secretion

(2011) M. Hanss et al.   HAEMATOLOGICA

Novel fibrinogen (Bβ401Gly→Val) presents as dys- or hypodysfibrinogenaemia due to alterations in sialic acid content

(2011) Fernando Roncolato et al.   THROMBOSIS AND HAEMOSTASIS

Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content

(2010) Ryan L. Davis et al.   THROMBOSIS AND HAEMOSTASIS

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob ‘A’

(2010) Silja Vorjohann et al.   THROMBOSIS AND HAEMOSTASIS

Adjacent substitutions (γ352Gly→Cys and 353Thr→Pro) in fibrinogen Ilam cause diminished γ chain expression

(2010) Jocelyn Oliver et al.   THROMBOSIS AND HAEMOSTASIS

Altered fibrin clot structure/function in patients with idiopathic venous thromboembolism and in their relatives

(2009) A. Undas et al.   BLOOD

Deletion of five residues from the coiled coil of fibrinogen (B  Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia

(2009) S. O. Brennan et al.   HAEMATOLOGICA

New fibrinogen substitution (γSer313Arg) causes diminished γ chain expression and hypodysfibrinogenaemia

(2009) Ryan Davis et al.   THROMBOSIS AND HAEMOSTASIS

Recombinant variant fibrinogens substituted at residues γ326Cys and γ339Cys demonstrated markedly impaired secretion of assembled fibrinogen

(2009) Ayumi Haneishi et al.   THROMBOSIS RESEARCH

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bβ and γ chain mutations

(2008) G. CASTAMAN et al.   HAEMOPHILIA