HuGE Literature Finder
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| The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees. Thrombosis research 2021 Mar 202 8-13. Chen Juanjuan, Li Qiang, Lin Sheng, Li Fenxia, Huang Limin, Jin Wangjie, Yang Xu, Li Yihong, Li Kun, Xiong Yufeng, Fan Dongmei, Zheng Lei, Luo Dixian, Li Liyan, Yang Xue |
| Common Genetic Variants in ABO and CLEC4M Modulate the Pharmacokinetics of Recombinant FVIII in Severe Hemophilia A Patients. Thrombosis and haemostasis 2020 Jul . Garcia-Martínez Iris, Borràs Nina, Martorell Marta, Parra Rafael, Altisent Carme, Ramírez Lorena, Álvarez-Román Maria Teresa, Nuñez Ramiro, Megias-Vericat Juan Eduardo, Corrales Irene, Alonso Sofia, Vidal Francis |
| Investigating the influence of LCT rs3754689 polymorphism on inhibitor development in Iranian and Afghan patients with severe hemophilia A. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2019 Oct . Bahrami Zadegan Sobhan, Mousavi Sayed H, Damavandi Narges, Samiee Aref Mohammad H, Zeinali Siro |
| Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates. Journal of thrombosis and haemostasis : JTH 2019 May . Lunghi Barbara, Bernardi Francesco, Martinelli Nicola, Frusconi Sabrina, Branchini Alessio, Linari Silvia, Marchetti Giovanna, Castaman Giancarlo, Morfini Massi |
| Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement. Journal of thrombosis and haemostasis : JTH 2018 Apr 16 (4): 778-790. Spena S, Garagiola I, Cannavò A, Mortarino M, Mannucci P M, Rosendaal F R, Peyvandi F, |
| Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2016 Dec 32 (4): 475-480. Shekari Khaniani Mahmoud, Ebrahimi Abdollah, Daraei Setareh, Derakhshan Sima Mansoo |
| Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations. Journal of thrombosis and haemostasis : JTH 2016 Dec . Loomans J I, van Velzen A S, Eckhardt C L, Peters M, Mäkipernaa A, Holmstrom M, Brons P P, Dors N, Haya S, Voorberg J, van der Bom J G, Fijnvandraat |
| Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients. Blood 2016 Jun 127 (23): 2924-33. Gorski Marcin M, Blighe Kevin, Lotta Luca A, Pappalardo Emanuela, Garagiola Isabella, Mancini Ilaria, Mancuso Maria Elisa, Fasulo Maria Rosaria, Santagostino Elena, Peyvandi Flo |
| A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect. Molecular genetics & genomic medicine 2016 Mar 4 (2): 152-9. Garagiola Isabella, Seregni Sabrina, Mortarino Mimosa, Mancuso Maria Elisa, Fasulo Maria Rosaria, Notarangelo Lucia Dora, Peyvandi Flo |
| Complexity and diversity of F8 genetic variations in the 1000 genomes. Journal of thrombosis and haemostasis : JTH 2015 Sep . Li Jiani, Carrero Ivenise G, Dong Jing-Fei, Yu Fu |
| Factor VIII gene variants and inhibitor risk in African American hemophilia A patients. Blood 2015 Aug 126 (7): 895-904. Gunasekera Devi, Ettinger Ruth A, Nakaya Fletcher Shelley, James Eddie A, Liu Maochang, Barrett John C, Withycombe Janice, Matthews Dana C, Epstein Melinda S, Hughes Richard J, Pratt Kathleen P, |
| Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? Thrombosis research 2015 Jun 135 (6): 1057-63. Lannoy N, Lambert C, Vikkula M, Hermans |
| Genotyping of intron 22 inversion of factor VIII gene for diagnosis of hemophilia A by inverse-shifting polymerase chain reaction and capillary electrophoresis. Analytical and bioanalytical chemistry 2014 Sep 406 (22): 5447-54. Pan Tzu-Yu, Wang Chun-Chi, Shih Chi-Jen, Wu Hui-Fen, Chiou Shyh-Shin, Wu Shou-M |
| The Fc gamma receptor IIa R131H polymorphism is associated with inhibitor development in severe hemophilia A. Journal of thrombosis and haemostasis : JTH 2014 Aug 12 (8): 1294-301. Eckhardt C L, Astermark J, Nagelkerke S Q, Geissler J, Tanck M W T, Peters M, Fijnvandraat K, Kuijpers T |
| Influence of factor 5 rs6025 and factor 2 rs1799963 mutation on inhibitor development in patients with hemophilia A--an Israeli-German multicenter database study. Thrombosis research 2014 Apr 133 (4): 544-9. Kenet Gili, Bidlingmaier Christoph, Bogdanova Nadja, Ettingshausen Carmen Escuriola, Goldenberg Neil, Gutsche Sven, Halimeh Susan, Holzhauer Susanne, Kurnik Karin, Limperger Verena, Junker Ralf, Nowak-Göttl Ulri |
| A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patients. Turkish journal of haematology : official journal of Turkish Society of Haematology 2014 Mar 31 (1): 17-24. Fidanc? Inanç De?er, Zülfikar Bülent, Kavakl? Kaan, Ar M Cem, K?l?nç Yurdanur, Ba?lar Zafer, Ca?layan Server Han |
| Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A. Blood 2013 Sep 122 (11): 1954-62. Eckhardt Corien L, van Velzen Alice S, Peters Marjolein, Astermark Jan, Brons Paul P, Castaman Giancarlo, Cnossen Marjon H, Dors Natasja, Escuriola-Ettingshausen Carmen, Hamulyak Karly, Hart Daniel P, Hay Charles R M, Haya Saturnino, van Heerde Waander L, Hermans Cedric, Holmström Margareta, Jimenez-Yuste Victor, Keenan Russell D, Klamroth Robert, Laros-van Gorkom Britta A P, Leebeek Frank W G, Liesner Ri, Mäkipernaa Anne, Male Christoph, Mauser-Bunschoten Evelien, Mazzucconi Maria G, McRae Simon, Meijer Karina, Mitchell Michael, Morfini Massimo, Nijziel Marten, Oldenburg Johannes, Peerlinck Kathelijne, Petrini Pia, Platokouki Helena, Reitter-Pfoertner Sylvia E, Santagostino Elena, Schinco Piercarla, Smiers Frans J, Siegmund Berthold, Tagliaferri Annarita, Yee Thynn T, Kamphuisen Pieter Willem, van der Bom Johanna G, Fijnvandraat Karin, |
| Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A. Blood 2013 Mar . Carcao MD, van den Berg HM, Ljung R, Mancuso ME |
| F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort. Haemophilia : the official journal of the World Federation of Hemophilia 2013 Jan 19 (1): 113-8. Schwarz J, Astermark J, Menius E D, Carrington M, Donfield S M, Gomperts E D, Nelson G W, Oldenburg J, Pavlova A, Shapiro A D, Winkler C A, Berntorp E, |
| Response to desmopressin is strongly dependent on F8 gene mutation type in mild and moderate haemophilia A. Thrombosis and haemostasis 2013 Jan 109 (3): 3. Stoof SC, Sanders YV, Petrij F, Cnossen MH, de Maat MP, Leebeek FW, Kruip MJ |
| Factor VIII haplotypes frequencies in Tunisian hemophiliacs A. Diagnostic pathology 2011 6 (1): 54. Elmahmoudi Hejer, Belhedi Nejla, Jlizi Asma, Zahra Kaouther, Meddeb Balkis, Ben Ammar Elgaaied Amel, Gouider Em |
| Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. Journal of thrombosis and haemostasis : JTH 2009 Nov 7 (11): 1809-15. Coppola A, Margaglione M, Santagostino E, Rocino A, Grandone E, Mannucci P M, Di Minno G, |
| Inhibitors of factor VIII in black patients with hemophilia. The New England journal of medicine 2009 Apr 360 (16): 1618-27. Viel Kevin R, Ameri Afshin, Abshire Thomas C, Iyer Rathi V, Watts Raymond G, Lutcher Charles, Channell Cynthia, Cole Shelley A, Fernstrom Karl M, Nakaya Shelley, Kasper Carol K, Thompson Arthur R, Almasy Laura, Howard Tom |
| [Frequency of intron 1 inversion of factor VIII gene in Chinese hemophilia A patients with case report of a female patient with heterozygous intron 1 inversion]. Zhonghua yi xue za zhi 2008 Oct 88 (38): 2672-4. Yan Zhen-yu, Liang Yan, Yan Mei, Fan Lian-kai, Xiao Bai, Hua Bao-lai, Liu Jing-zhong, Zhao Yong-qia |
| Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2008 Jul 19 (5): 383-8. Fidanci Inanç D, Kavakli Kaan, Uçar Canan, Timur Cetin, Meral Adalet, Kilinç Yurdanur, Sayilan Hülya, Kazanci Elif, Ca?layan S Han |
| The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica 2008 May 93 (5): 722-8. Margaglione Maurizio, Castaman Giancarlo, Morfini Massimo, Rocino Angiola, Santagostino Elena, Tagariello Giuseppe, Tagliaferri Anna Rita, Zanon Ezio, Bicocchi Maria Patrizia, Castaldo Giuseppe, Peyvandi Flora, Santacroce Rosa, Torricelli Francesca, Grandone Elvira, Mannucci Pier Mannuccio, |
| Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2008 Apr 19 (3): 197-202. Santacroce Rosa, Santoro Rita, Sessa Francesco, Iannaccaro Piergiorgio, Sarno Michelina, Longo Vittoria, Gallone Anna, Vecchione Gennaro, Muleo Gaetano, Margaglione Mauriz |
| Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. Journal of human genetics 2008 53 (3): 275-84. Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli S H, Lombardi A M, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M, |
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- Page last updated:Jun 28, 2022
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