Literature DB >> 31712947

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).

Tomas Simurda1, Sonia Caccia2, Rosanna Asselta3, Jana Zolkova4, Jan Stasko4, Ingrid Skornova4, Zuzana Snahnicanova5, Dusan Loderer5, Zora Lasabova5, Peter Kubisz4.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2020        PMID: 31712947     DOI: 10.1007/s11239-019-01991-x

Source DB:  PubMed          Journal:  J Thromb Thrombolysis        ISSN: 0929-5305            Impact factor:   2.300


× No keyword cloud information.
  7 in total

1.  Assessment of Risk Factors and Cognitive Level Associated with Venous Thrombosis Patients in a Coexistence of Multiple Diseases Study in Shanghai.

Authors:  Jian Fan; Yan Shang; Fei Shen; Qiaowen Huang; Ziyu Wang; Yiping Han; Jiayi Zhao
Journal:  Int J Gen Med       Date:  2022-02-16

2.  Congenital dysfibrinogenaemia presented with preterm premature rupture of the membranes and vaginal bleeding.

Authors:  Zaker I Schwabkey; Farrell C Sheehan; Courtney Bellomo; Mihir Raval
Journal:  BMJ Case Rep       Date:  2020-09-18

Review 3.  Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype.

Authors:  Tomas Simurda; Monika Brunclikova; Rosanna Asselta; Sonia Caccia; Jana Zolkova; Zuzana Kolkova; Dusan Loderer; Ingrid Skornova; Jan Hudecek; Zora Lasabova; Jan Stasko; Peter Kubisz
Journal:  Int J Mol Sci       Date:  2020-06-29       Impact factor: 5.923

Review 4.  Fibrinogen and Atherosclerotic Cardiovascular Diseases-Review of the Literature and Clinical Studies.

Authors:  Stanisław Surma; Maciej Banach
Journal:  Int J Mol Sci       Date:  2021-12-24       Impact factor: 5.923

Review 5.  Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis.

Authors:  Monika Brunclikova; Tomas Simurda; Jana Zolkova; Miroslava Sterankova; Ingrid Skornova; Miroslava Dobrotova; Zuzana Kolkova; Dusan Loderer; Marian Grendar; Jan Hudecek; Jan Stasko; Peter Kubisz
Journal:  J Clin Med       Date:  2022-02-18       Impact factor: 4.241

Review 6.  Antithrombotic Therapy in Patients with Peripheral Artery Disease: A Focused Review on Oral Anticoagulation.

Authors:  José Miguel Rivera-Caravaca; Anny Camelo-Castillo; Inmaculada Ramírez-Macías; Pablo Gil-Pérez; Cecilia López-García; María Asunción Esteve-Pastor; Esteban Orenes-Piñero; Antonio Tello-Montoliu; Francisco Marín
Journal:  Int J Mol Sci       Date:  2021-07-01       Impact factor: 5.923

Review 7.  Women With Congenital Hypofibrinogenemia/Afibrinogenemia: From Birth to Death.

Authors:  Yan Zhang; Xiaohang Zuo; Yue Teng
Journal:  Clin Appl Thromb Hemost       Date:  2020 Jan-Dec       Impact factor: 2.389

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.