Results 81 to 90 of about 1,246 (182)

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype

The Application of Clinical Genetics, 2019
Ophira Salomon,1 Ortal Barel,2 Eran Eyal,2 Reut Shnerb Ganor,3 Yeroham Kleinbaum,4 Mordechai Shohat2 1Institute of Thrombosis and Hemostasis, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 2Cancer Research ...
Salomon O, Barel O, Eyal E, Shnerb Ganor R, Kleinbaum Y, Shohat M   +5 more
doaj  

Haemorheological profile in congenital afibrinogenemia and in congenital dysfibrinogenemia: A clinical case report

, 2019
Although the inherited quantitative and qualitative disorders of fibrinogen are rare, in the course of time patients may develop complications including episodes of arterial and venous thrombosis. It can be useful to complete the laboratory assessment of
Siragusa S., Napolitano M., Caimi G., Lo Presti R., Hopps E., Raso S.   +5 more
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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
Fibrinogen is a hexameric glycoprotein consisting of two sets of three polypeptides (the Aα, Bβ, and γ chains, encoded by the three genes FGA, FGB, and FGG).
Platé, Manuela, M. Robusto, Robusto, Michela, Duga, Stefano, S. Duga, Peyvandi, Flora, Asselta, Rosanna, C. Santoro, M. Platé, SANTORO, Cristina, R. Asselta, F. Peyvandi   +11 more
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Hereditary dysfibrinogenemia.

Clinical Chemistry, 1985
Abstract Inherited qualitative abnormalities of fibrinogen have been documented in more than 100 families. These dysfibrinogenemias usually are clinically silent, but in some cases are associated with bleeding, thrombosis, or defective wound healing.
openaire   +2 more sources

Heterozygous Bβ-chain C-terminal 12 amino acid elongation variant, BβX462W (Kyoto VI), showed dysfibrinogenemia [PDF]

, 2012
A heterozygous patient with dysfibrinogenemia with slight bleeding and no thrombotic complications was diagnosed with fibrinogen Kyoto VI (K-VI). To elucidate the genetic mutation(s) and characterize the variant protein, we performed the following ...
Honda, Takayuki, Hirota-Kawadobora, Masako, Nobuo Okumura, Takayuki Honda, Naohisa Fujita, Fumiko Terasawa, Tohru Inaba, Takezawa, Yuka, Mitsutoshi Sugano, Fujita, Naohisa, Sugano, Mitsutoshi, Masazumi Saito, Inaba, Tohru, Yuka Takezawa, Okumura, Nobuo, Saito, Masazumi, Masako Hirota-Kawadobora, Terasawa, Fumiko   +17 more
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A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family

Hereditas
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected
Xiaoying Xie, Juan Du, Shunkang Geng, Baoqin Yi, Qingpu Li, Jiangcheng Zuo   +5 more
doaj   +1 more source

Laboratory investigation of thrombophilia [PDF]

Journal of Medical Biochemistry, 2014
Laboratory investigation of thrombophilia is aimed at detecting the well-established hereditary and acquired causes of venous thromboembolism, including activated protein C resistance/factor V Leiden mutation, prothrombin G20210A mutation, deficiencies ...
Margetić Sandra
doaj  

Familial dysfibrinogenemia and thrombophilia: report on a study of the SSC subcommittee on fibrinogen

, 1995
Approximately 250 cases of dysfibrinogenemia have been reported; 55% were asymptomatic (detected by chance), 25% had a tendency to bleeding, and 20% were reported to have a tendency to thrombosis.
Haverkate, F., Samama, M.
core  

Severe haemorrhagic diathesis due to acquired hypofibrinogenemia in a patient with early T-cell precursor acute lymphoblastic leukaemia/lymphoma: a case report

Frontiers in Cardiovascular Medicine
The most frequent haematological malignancy associated with acquired hypo/dysfibrinogenemia is multiple myeloma. We present an unusual case of severe haemorrhagic diathesis due to acquired hypofibrinogenemia in a patient with early T-cell precursor acute
Luca Spiezia, Marcello Riva, Carmela Gurrieri, Elena Campello, Paolo Simioni   +4 more
doaj   +1 more source

Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects

, 2010
Hereditary dysfibrinogenemia is a rare clotting disorder, which results from mutations in at least one of the three fibrinogen genes. We examined the frequency of hemostatic clinical and laboratory anomalies at presentation of 37 probands from 12 ...
Scharrer, Inge, Galanakis, Dennis, Miesbach, Wolfgang, Neerman Arbez, Marguerite, Henschen, Agnes, Spitzer, Silvia   +5 more
core   +1 more source