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Perinatal stroke and hypofibrinogenemia: Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state?

  • Authors : Marchi R; Division of Angiology and Hemostasis, Department of Medicine, University Hospitals of Geneva, University of Geneva, Switzerland. Electronic address: .; Meunier S

Subjects: Afibrinogenemia*/Afibrinogenemia*/Afibrinogenemia*/genetics ; Afibrinogenemia*/Afibrinogenemia*/Afibrinogenemia*/blood ; Mutation, Missense*

  • Source: Thrombosis research [Thromb Res] 2024 Sep; Vol. 241, pp. 109106. Date of Electronic Publication: 2024 Jul 30.Publisher: Pergamon Press Country of Publication: United States NLM ID: 0326377 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec.

  • Authors : Pelland-Marcotte MC; Department of Paediatrics, Division of Haematology, Centre Mère Enfant Soleil, Centre Hospitalier de l'Université de Québec, Quebec City, Canada.; Centre de recherche du CHU de Québec, axe Reproduction, santé de la mère et de l'enfant, Québec, Canada.

Subjects: Mutation, Missense* ; Fibrinogen*/Fibrinogen*/Fibrinogen*/genetics ; Pedigree*

  • Source: Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2024 May; Vol. 30 (3), pp. 858-861. Date of Electronic Publication: 2024 Apr 01.Publisher: Blackwell Science Country of Publication: England NLM ID: 9442916 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.

  • Authors : Xu N; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.; Zheng L

Subjects: Afibrinogenemia* ; Fibrinogen*/Fibrinogen*/Fibrinogen*/genetics ; Mutation, Missense*Hypodysfibrinogenemia, Congenital

  • Source: Hereditas [Hereditas] 2024 Jan 18; Vol. 161 (1), pp. 4. Date of Electronic Publication: 2024 Jan 18.Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 0374654 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic Analysis of Afibrinogenemia and Hypofibrinogenemia: Novel Mutations in the FGB Gene in the Turkish Population.

  • Authors : Özkan DT; Vocational School of Health Services, Istanbul Okan University, Istanbul, Turkey, .; Sarper N

Subjects: Codon, Nonsense* ; Exons* ; Mutation, Missense*

  • Source: Acta haematologica [Acta Haematol] 2020; Vol. 143 (6), pp. 529-532. Date of Electronic Publication: 2020 Apr 14.Publisher: Karger Country of Publication: Switzerland NLM ID: 0141053 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9662

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Heterozygous variant fibrinogen γA289V (Kanazawa III) was confirmed as hypodysfibrinogenemia by plasma and recombinant fibrinogens.

  • Authors : Kaido T; Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan.; Yoda M

Subjects: Heterozygote* ; Mutation, Missense*; Afibrinogenemia/Afibrinogenemia/Afibrinogenemia/*genetics

  • Source: International journal of laboratory hematology [Int J Lab Hematol] 2020 Apr; Vol. 42 (2), pp. 190-197. Date of Electronic Publication: 2020 Jan 20.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families.

  • Authors : Amri Y; Hematology Laboratory, Bechir Hamza Children's Hospital, Tunis, Tunisia. Electronic address: .; Toumi Nel H

Subjects: Mutation, Missense*; Afibrinogenemia/Afibrinogenemia/Afibrinogenemia/*genetics ; Fibrinogen/Fibrinogen/Fibrinogen/*genetics

  • Source: Thrombosis research [Thromb Res] 2016 Jul; Vol. 143, pp. 11-6. Date of Electronic Publication: 2016 Apr 27.Publisher: Pergamon Press Country of Publication: United States NLM ID: 0326377 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Phenotypic and genetic analysis of hypofibrinogenemia because of a novel missense mutation in the FGB: Leu121Arg.

  • Authors : Zhang H; Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, China.; Luo S

Subjects: Mutation, Missense*; Afibrinogenemia/Afibrinogenemia/Afibrinogenemia/*genetics ; Fibrinogen/Fibrinogen/Fibrinogen/*genetics

  • Source: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2019 Jul; Vol. 30 (5), pp. 233-238.Publisher: Lippincott Williams And Wilkins Country of Publication: England NLM ID: 9102551 Publication Model: Print Cited Medium: Internet ISSN:

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Identification of a recurrent missense mutation in the FGA gene likely causing a congenital fibrinogen disorder.

  • Authors : Gao R; Department of Laboratory Medicine, Jiaozuo Women's and Children's Hospital.; Bi M

Subjects: Mutation, Missense*; Afibrinogenemia/Afibrinogenemia/Afibrinogenemia/*genetics ; Fibrinogen/Fibrinogen/Fibrinogen/*geneticsDysfibrinogenemia, Congenital

  • Source: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2021 Sep 01; Vol. 32 (6), pp. 424-426.Publisher: Lippincott Williams And Wilkins Country of Publication: England NLM ID: 9102551 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Identification and characterization of novel mutations in Chinese patients with congenital fibrinogen disorders.

  • Authors : Zhou P; Department of Medical Laboratory, First Affiliated Hospital of Nanchang University, People's Republic of China. Electronic address: .; Yu M

Subjects: Mutation, Missense*; Afibrinogenemia/Afibrinogenemia/Afibrinogenemia/*genetics ; Fibrinogen/Fibrinogen/Fibrinogen/*genetics

  • Source: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2021 Feb; Vol. 86, pp. 102489. Date of Electronic Publication: 2020 Aug 23.Publisher: Academic Press Country of Publication: United States NLM ID: 9509932 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

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

  • Authors : Casini A; Division of Angiology and Haemostasis, Faculty of Medicine, University Hospitals of Geneva, Geneva, Switzerland.; Brungs T

Subjects: Mutation, Missense*; Afibrinogenemia/Afibrinogenemia/Afibrinogenemia/*genetics ; Blood Coagulation/Blood Coagulation/Blood Coagulation/*genetics Hypodysfibrinogenemia, Congenital

  • Source: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2017 May; Vol. 15 (5), pp. 876-888. Date of Electronic Publication: 2017 Mar 06.Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836

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  • 1-10 of  54 results for ""Afibrinogenemia""