Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 17 (of 17 Records) |
Query Trace: Dysfibrinogenemia[original query] |
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High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. Blood 2009 Aug 114 (9): 1929-36. Morris Timothy A, Marsh James J, Chiles Peter G, Magaña Marisa M, Liang Ni-Cheng, Soler Xavier, Desantis Daniel J, Ngo Debby, Woods Virgil |
Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2015 Jul 26 (5): 564-71. Bin Qiong, Liang Fang, Ou Dan-yan, Cui Hai-rong, Luo Jian-mi |
Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. Clinical and experimental pharmacology & physiology 2015 Oct . Zhou Jingyi, Xin Yu, Ding Qiulan, Jiang Linlin, Chen Yaopeng, Dai Jing, Lu Yeling, Wu Xi, Liang Qian, Wang Hongli, Wang Xuefe |
Diagnosis of congenital fibrinogen disorders. Annales de biologie clinique 2016 Aug 74 (4): 405-412. Lebreton Aurélien, Casini Alessand |
[Dysfibrinogenemia developed in a pregnant woman who has fibrinogen AaThr312Ala (ACT/GCT) polymorphism]. [Rinsho? ketsueki] The Japanese journal of clinical hematology 2016 57 (1): 31-5. Yamaguchi Ayaka, Taga Atsuko, Kamei Saori, Wada Michiko, Fujita Yohta, Wada Hideo, Fujita Koh |
Mutational Epidemiology of Congenital Fibrinogen Disorders. Thrombosis and haemostasis 2018 10 118 (11): 1867-1874. Casini Alessandro, Blondon Marc, Tintillier Veronique, Goodyer Matthew, Sezgin Melike E, Gunes Adalet M, Hanss Michel, de Moerloose Philippe, Neerman-Arbez Margueri |
Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations. Thrombosis research 2019 9 182 133-140. Wypasek Ewa, Klukowska Anna, Zdziarska Joanna, Zawilska Krystyna, Treli?ski Jacek, Iwaniec Teresa, Mital Andrzej, Pietrys Danuta, Sydor Wojciech, Neerman-Arbez Marguerite, Undas Anet |
Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders. European journal of haematology 2019 Jul . Castaman Giancarlo, Giacomelli Sofia H, Biasoli Chiara, Contino Laura, Radossi Pao |
Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population. Journal of thrombosis and thrombolysis 2020 9 51 (4): 1127-1131. Wan Yafang, Li Tian, Zhang Wei, Wang Liying, Zhang Yu, Liao Pu, Liu Shiqia |
Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations. International journal of laboratory hematology 2020 7 42 (5): 619-627. Tavasoli Behnaz, Safa Majid, Dorgalaleh Akbar, Ghasemi Jahan B, Rezaei Makhouri Farahnaz, Rezvani Mohammad R, Ahmadi Abbas, Tabibian Shadi, Jazebi Mohammad, Baghaipour Mohammad R, Zaker Farh |
Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia. International journal of hematology 2020 3 111 (6): 795-802. Simurda Tomas, Zolkova Jana, Kolkova Zuzana, Loderer Dusan, Dobrotova Miroslava, Skornova Ingrid, Brunclíkova Monika, Grendar Marian, Lasabova Zora, Stasko Jan, Kubisz Pet |
Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population. Haemophilia : the official journal of the World Federation of Hemophilia 2021 8 27 (6): 1022-1027. Shen Ming-Ching, Wang Jiaan-Der, Tsai Woei, Lin Ching-Yeh, Lin Jen-Shiou, Kuo Su-Feng, Lin Po-Te, Huang Ying-Chih, Hung Mei-H |
Clinical and molecular characterization of Iranian patients with congenital fibrinogen disorders. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2021 7 60 (6): 103203. Mohsenian Samin, Seidizadeh Omid, Mirakhorli Mojgan, Jazebi Mohammad, Azarkeivan Azi |
Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding. Seminars in thrombosis and hemostasis 2021 7 48 (2): 161-173. Bor Mustafa Vakur, Feddersen Søren, Pedersen Inge Søkilde, Sidelmann Johannes Jakobsen, Kristensen Søren Ris |
Whole Blood Thromboelastometry by ROTEM and Thrombin Generation by Genesia According to the Genotype and Clinical Phenotype in Congenital Fibrinogen Disorders. International journal of molecular sciences 2021 3 22 (5): . Szanto Timea, Lassila Riitta, Lemponen Marja, Lehtinen Elina, Neerman-Arbez Marguerite, Casini Alessand |
Markers of Hereditary Thrombophilia with Unclear Significance. Hamostaseologie 2022 12 42 (6): 370-380. Sachs Ulrich J, Kirsch-Altena Anette, Müller Je |
Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2024 1 . Tomas Simurda, Rita Marchi, Alessandro Casini, Marguerite Neerman-Arbez, Miroslava Drotarova, Ingrid Skornova, Jana Zolkova, Zuzana Kolkova, Dusan Loderer, Monika Brunclikova, Kristina Maria Belakova, Jan Stas |
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- Page last updated:Apr 22, 2024
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