HuGE Literature Finder
Records 1-17
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Whole exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.
Blood 2020 May . Desch Karl, Ozel Ayse Bilge, Halvorsen Matt, Jacobi Paula M, Golden Krista L, Underwood Mary I, Germain Marine, Trégouët David-Alexandre, Reitsma Pieter H, Kearon Clive, Mokry Lauren, Richards Brent, Williams Frances, Li Jun, Goldstein David B, Ginsburg Dav |
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The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications.
Thrombosis research 2019 01 173 12-19. Kovac Mirjana, Mitic Gorana, Mikovic Zeljko, Mandic Vesna, Miljic Predrag, Mitrovic Mirjana, Tomic Branko, Bereczky Zsuzsan |
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Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency.
Thrombosis and haemostasis 2017 Mar . Alhenc-Gelas Martine, Plu-Bureau Genevieve, Hugon-Rodin Justine, Picard Véronique, Horellou Marie-Helene, |
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Predominant mutations in a hotspot of SERPINC1 associated with venous thromboembolism in the Chinese population: a case-control study.
Lancet (London, England) 2016 Oct 388 Suppl 1 S39. Tang Liang, Zeng Wei, Wang Qing-Yun, Toderici Mara, de la Morena-Barrio Maria Eugenia, Corral Javier, Hu |
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Identification of 2 Novel Polymorphisms and rs3138521 in 5' Untranslated Region of SERPINC1 Gene in North Indian Population With Deep Vein Thrombosis.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2016 Jun . Bhakuni Teena, Sharma Amit, Ali Mohammad Farhan, Mahapatra Manoranjan, Saxena Renu, Jairajpuri Mohamad Am |
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A common missense variant in exon 5 of antithrombin gene (SERPINC1) in Indian patients with thrombosis.
Thrombosis research 2016 Apr 143 1-2. Deshpande Rutuja, Kulkarni Bipin, Ghosh Kanjaksha, Shetty Shrima |
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Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary; phenotype analysis in a large cohort.
Journal of thrombosis and haemostasis : JTH 2016 Jan . Gindele R, Oláh Z, Ilonczai P, Speker M, Udvari Á, Selmeczi A, Pfliegler G, Marján E, Kovács B, Boda Z, Muszbek L, Bereczky |
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Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
PloS one 2016 11 (3): e0152159. Toderici Mara, de la Morena-Barrio María Eugenia, Padilla José, Miñano Antonia, Antón Ana Isabel, Iniesta Juan Antonio, Herranz María Teresa, Fernández Nuria, Vicente Vicente, Corral Javi |
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Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis.
PloS one 2016 11 (3): e0151347. Gorski Marcin M, Lotta Luca A, Pappalardo Emanuela, de Haan Hugoline G, Passamonti Serena M, van Hylckama Vlieg Astrid, Martinelli Ida, Peyvandi Flo |
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Genetic analysis should be included in clinical practice when screening for antithrombin deficiency.
Thrombosis and haemostasis 2015 Feb 113 (2): 262-71. Zeng Wei, Tang Liang, Jian Xiao-Rong, Li Yi-Qing, Guo Tao, Wang Qing-Yun, Liu Hui, Wu Ying-Ying, Cheng Zhi-Peng, Hu Bei, Lu Xuan, Yu Jian-Ming, Deng Jun, Wang Hua-Fang, Sun Chun-Yan, Yang Yan, Hu |
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Multilocus genetic risk scores for venous thromboembolism risk assessment.
Journal of the American Heart Association 2014 Oct 3 (5): e001060. Soria José Manuel, Morange Pierre-Emmanuel, Vila Joan, Souto Juan Carlos, Moyano Manel, Trégouët David-Alexandre, Mateo José, Saut Noémi, Salas Eduardo, Elosua Rober |
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Association of F11 polymorphism rs2289252 with deep vein thrombosis and related phenotypes in population of Latvia.
Thrombosis research 2014 Sep 134 (3): 659-63. Rovite Vita, Maurins Uidis, Megnis Kaspars, Vaivade Iveta, Pe?ulis Raitis, Rits Juris, Prave Sandra, Klovins Jan |
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Prevalence of hereditary antithrombin mutations is higher than estimated in patients with thrombotic events.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2013 Jun 24 (4): 444-8. Fischer Ronald, Sachs Ulrich J, Heidinger Kathrin S, Eisenburger Dominik, Kemkes-Matthes Betti |
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[Frequencies of the new thrombophilic mutations of antithrombin (SERPINC1) (IVS +141G>A), glycoprotein GPVI (Ser219Pro) and cytochrome CYP4V2 (Lys259Gln) in healthy middle-aged people in Central Bohemia].
Vnitr?ní lékar?ství 2012 58 (7-8): 7-8. Kvasni?ka J, Hájková J, Bob?íková P, Kvasni?ka T, Dušková D, Poletínová S, Kieferová V |
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New gene variants associated with venous thrombosis: a replication study in White and Black Americans.
Journal of thrombosis and haemostasis : JTH 2011 Mar 9 (3): 489-95. Austin H, De Staercke C, Lally C, Bezemer I D, Rosendaal F R, Hooper W |
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Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.
Thrombosis research 2009 May 124 (1): 14-8. Miyata Toshiyuki, Sato Yukiko, Ishikawa Junko, Okada Hiromi, Takeshita Satoshi, Sakata Toshiyuki, Kokame Koichi, Kimura Rina, Honda Shigenori, Kawasaki Tomio, Suehisa Etsuji, Tsuji Hajime, Madoiwa Seiji, Sakata Yoichi, Kojima Tetsuhito, Murata Mitsuru, Ikeda Yas |
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Gene variants associated with deep vein thrombosis.
JAMA 2008 Mar 299 (11): 1306-14. Bezemer Irene D, Bare Lance A, Doggen Carine J M, Arellano Andre R, Tong Carmen, Rowland Charles M, Catanese Joseph, Young Bradford A, Reitsma Pieter H, Devlin James J, Rosendaal Frits |
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- Page last updated:Apr 15, 2021
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