Rui Vilar

Geneve, GE, Switzerland

Last Updated: 09/26/2026

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Found 11 publications

Novel missense mutations affecting the structure of the conserved fibrinogen Bβ C-terminal domain cause congenital hypofibrinogenemia.

Novel missense mutations affecting the structure of the conserved fibrinogen Bβ C-terminal domain cause congenital hypofibrinogenemia.

Journal: Thrombosis research

Published: April 15, 2021

Chemical Modulators of Fibrinogen Production and Their Impact on Venous Thrombosis.

Chemical Modulators of Fibrinogen Production and Their Impact on Venous Thrombosis.

Journal: Thrombosis and haemostasis

Published: December 10, 2020

A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype.

A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype.

Journal: Biomedicines

Published: October 27, 2020

Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutations.

Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutations.

Journal: Thrombosis research

Published: June 10, 2020

A genetic modifier of venous thrombosis in zebrafish reveals a functional role for fibrinogen AαE in early hemostasis.

A genetic modifier of venous thrombosis in zebrafish reveals a functional role for fibrinogen AαE in early hemostasis.

Journal: Blood advances

Published: January 09, 2020

Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature.

Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: January 01, 2020

Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A.

Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A.

Journal: Thrombosis research

Published: October 17, 2019

Fibrin(ogen) in human disease: both friend and foe.

Fibrin(ogen) in human disease: both friend and foe.

Journal: Haematologica

Published: September 19, 2019

Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype.

Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype.

Journal: Thrombosis research

Published: July 15, 2019

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: January 08, 2017

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

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

Journal: Journal of thrombosis and haemostasis : JTH

Published: November 18, 2016

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Last Updated: 09/26/2026