Human Genome Epidemiology Literature Finder
Records 1 - 26 (of 26 Records) |
Query Trace: Thrombosis and SERPINC1[original query] |
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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 |
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 |
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 |
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. Journal of thrombosis and haemostasis : JTH 2013 Aug . Puurunen M, Salo P, Engelbarth S, Javela K, Perola M |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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, |
Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center. Thrombosis research 2017 11 160 119-128. Gindele Réka, Selmeczi Anna, Oláh Zsolt, Ilonczai Péter, Pfliegler György, Marján Erzsébet, Nemes László, Nagy Ágnes, Losonczy Hajna, Mitic Gorana, Kovac Mirjana, Balogh Gábor, Komáromi István, Schlammadinger Ágota, Rázsó Katalin, Boda Zoltán, Muszbek László, Bereczky Zsuzsan |
Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency. Oncotarget 2017 11 8 (48): 84417-84425. Zeng Wei, Hu Bei, Tang Liang, You Yan-Yan, Toderici Mara, de la Morena-Barrio Maria Eugenia, Corral Javier, Hu |
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 |
Genotype phenotype correlation in a pediatric population with antithrombin deficiency. European journal of pediatrics 2019 7 178 (10): 1471-1478. Kovac Mirjana, Mitic Gorana, Djilas Iva, Kuzmanovic Milos, Serbic Olivera, Lekovic Danijela, Tomic Branko, Bereczky Zsuzsan |
Congenital antithrombin deficiency in patients with splanchnic vein thrombosis. Liver international : official journal of the International Association for the Study of the Liver 2019 12 40 (5): 1168-1177. Baiges Anna, de la Morena-Barrio María Eugenia, Turon Fanny, Miñano Antonia, Alberto Ferrusquía Jose, Magaz Marta, Reverter Juan Carlos, Vicente Vicente, Hernández-Gea Virginia, Corral Javier, García-Pagán Juan Carl |
Association of SERPINC1 Gene Polymorphism (rs2227589) With Pulmonary Embolism Risk in a Chinese Population. Frontiers in genetics 2019 10 10 844. Yue Yongjian, Sun Qing, Xiao Lu, Liu Shengguo, Huang Qijun, Wang Minlian, Huo Mei, Yang Mo, Fu Yingy |
Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. Blood 2020 May . Desch Karl C, Ozel Ayse B, Halvorsen Matt, Jacobi Paula M, Golden Krista, Underwood Mary, Germain Marine, Tregouet David-Alexandre, Reitsma Pieter H, Kearon Clive, Mokry Lauren, Richards J Brent, Williams Frances, Li Jun Z, Goldstein David, Ginsburg Dav |
Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases. Frontiers in cardiovascular medicine 2021 2 7 617711. Bereczky Zsuzsanna, Gindele Réka, Fiatal Szilvia, Speker Marianna, Miklós Tünde, Balogh László, Mezei Zoltán, Szabó Zsuzsanna, Ádány Ró |
Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency. Frontiers in neurology 2022 6 13 841934. Kim Seondeuk, Lee Woo-Jin, Moon Jangsup, Jung Keun-H |
Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing. Diagnostics (Basel, Switzerland) 2022 5 12 (5): . Vrtel Petr, Slavik Ludek, Vodicka Radek, Stellmachova Julia, Prochazka Martin, Prochazkova Jana, Ulehlova Jana, Rohon Peter, Simurda Tomas, Stasko Jan, Martinkova Ivana, Vrtel Rad |
Patients with SERPINC1 rs2227589 polymorphism found to have multiple cerebral venous sinus thromboses despite a normal antithrombin level: A case report. World journal of clinical cases 2022 1 10 (2): 618-624. Liao Feng, Zeng Jun-Ling, Pan Jian-Gang, Ma Jing, Zhang Zhi-Jian, Lin Zhi-Jun, Lin Li-Feng, Chen Yu-Sen, Ma Xiao-Ta |
Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency-first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository. Journal of thrombosis and haemostasis : JTH 2023 2 . Kumar Riten, Bakeer Nihal, Dawson Jennifer, Al-Mughairy Alyaa, Stanek Joseph, Dunn Amy, Male Christoph, Chan Anthony, Williams Suz |
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