Vilar R - Search Results

1

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

Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P. Casini A, et al. Among authors: vilar r. J Thromb Haemost. 2017 May;15(5):876-888. doi: 10.1111/jth.13655. Epub 2017 Mar 6. J Thromb Haemost. 2017. PMID: 28211264 Free article. Review.

2

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

Marchi R, Vilar R, Durual S, Goodyer M, Gay V, Neerman-Arbez M, Casini A. Marchi R, et al. Among authors: vilar r. Thromb Res. 2021 Jan;197:56-64. doi: 10.1016/j.thromres.2020.11.003. Epub 2020 Nov 7. Thromb Res. 2021. PMID: 33186848 Free article.

3

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

Bártolo R, Arbez M, Vilar R, Szanto T, Lehtinen E, Trillot N, Rauch A, Casini A, Neerman-Arbez M. Bártolo R, et al. Among authors: vilar r. Thromb Res. 2021 Oct;206:5-8. doi: 10.1016/j.thromres.2021.07.013. Epub 2021 Jul 27. Thromb Res. 2021. PMID: 34352655

4

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.

Casini A, Vilar R, Beauverd Y, Aslan D, Devreese K, Mondelaers V, Alberio L, Gubert C, de Moerloose P, Neerman-Arbez M. Casini A, et al. Among authors: vilar r. Haemophilia. 2017 Jul;23(4):583-589. doi: 10.1111/hae.13190. Epub 2017 Mar 17. Haemophilia. 2017. PMID: 28306188

5

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

Vilar R, Fish RJ, Casini A, Neerman-Arbez M. Vilar R, et al. Haematologica. 2020 Jan 31;105(2):284-296. doi: 10.3324/haematol.2019.236901. Print 2020. Haematologica. 2020. PMID: 31949010 Free PMC article. Review.

6

Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype.

Simurda T, Casini A, Stasko J, Hudecek J, Skornova I, Vilar R, Neerman-Arbez M, Kubisz P. Simurda T, et al. Among authors: vilar r. Thromb Res. 2020 Apr;188:1-4. doi: 10.1016/j.thromres.2020.01.024. Epub 2020 Jan 25. Thromb Res. 2020. PMID: 32018167 No abstract available.

7

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

Vilar R, Casini A, Fournel A, Mourey G, Neerman-Arbez M. Vilar R, et al. Thromb Res. 2020 Sep;193:5-8. doi: 10.1016/j.thromres.2020.05.040. Epub 2020 May 28. Thromb Res. 2020. PMID: 32497950 No abstract available.

8

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.

Zdziarska J, Wypasek E, Iwaniec T, Vilar R, Neerman-Arbez M, Undas A. Zdziarska J, et al. Among authors: vilar r. Haemophilia. 2021 Jan;27(1):26-32. doi: 10.1111/hae.14211. Epub 2020 Nov 27. Haemophilia. 2021. PMID: 33245842 Review.

9

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

Vilar R, Lukowski SW, Garieri M, Di Sanza C, Neerman-Arbez M, Fish RJ. Vilar R, et al. Thromb Haemost. 2021 Apr;121(4):433-448. doi: 10.1055/s-0040-1718414. Epub 2020 Dec 10. Thromb Haemost. 2021. PMID: 33302304 Free PMC article.

10

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

Simurda T, Vilar R, Zolkova J, Ceznerova E, Kolkova Z, Loderer D, Neerman-Arbez M, Casini A, Brunclikova M, Skornova I, Dobrotova M, Grendar M, Stasko J, Kubisz P. Simurda T, et al. Among authors: vilar r. Biomedicines. 2020 Dec 13;8(12):605. doi: 10.3390/biomedicines8120605. Biomedicines. 2020. PMID: 33322159 Free PMC article.

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