Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 62 Records) |
| Query Trace: Hemophilia A and F8[original query] |
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| Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines. Human mutation 2020 9 41 (12): 2058-2072. Andersson Nadine G, Labarque Veerle, Letelier Anna, Mancuso Maria Elisa, Bührlen Martina, Fischer Kathelijn, Kartal-Kaess Mutlu, Koskenvuo Minna, Mikkelsen Torben, Ljung Rolf, |
| Deep intronic F8 c.5999-27A>G variant causes exon 19 skipping and leads to moderate hemophilia A. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2020 8 31 (7): 476-480. Wang Xiong, Hu Qun, Tang Ning, Lu Yanjun, Deng J |
| [Risk factors of inhibitor development among hemophilia patients revealed in a 10-year prospective cohort study in Japan, J-HIS2 (Japan Hemophilia Inhibitor Study 2)]. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 8 62 (7): 790-800. Yada Ko |
| A founder effect in hemophilia A patients from Russian Ural region with a new p.(His634Arg) variant in F8 gene. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2021 8 33 (2): 124-129. Salomashkina Valentina V, Pshenichnikova Olesya S, Perina Farida G, Surin Vadim |
| HLA Variants and Inhibitor Development in Hemophilia A: A Retrospective Case-Controlled Study Using the ATHNdataset. Frontiers in medicine 2021 5 8 663396. McGill Joseph R, Simhadri Vijaya L, Sauna Zuben |
| Genetic analysis of carrier status in female members of Japanese hemophilia families. Journal of thrombosis and haemostasis : JTH 2021 3 19 (6): 1493-1505. Shinozawa Keiko, Amano Kagehiro, Hagiwara Takeshi, Bingo Masato, Chikasawa Yushi, Inaba Hiroshi, Kinai Ei, Fukutake Katsuyu |
| 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 |
| ABO Blood Group and Inhibitor Risk in Severe Hemophilia A Patients: A Study from the Italian Association of Hemophilia Centers. Seminars in thrombosis and hemostasis 2021 2 47 (1): 84-89. Franchini Massimo, Coppola Antonio, Santoro Cristina, De Cristofaro Raimondo, Barillari Giovanni, Giordano Paola, Gresele Paolo, Lassandro Giuseppe, Napolitano Mariasanta, Lucchini Giuseppe, Luciani Matteo, Ferretti Antonietta, Baldacci Erminia, Riccardi Federica, Santoro Rita Carlotta, Pasca Samantha, Zanon Ezio, Tagliaferri Annari |
| [Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 12 39 (1): 72-75. Wang Wen, Cui Dongyan, Jiang Lijuan, Zhang Ai, Liu Aiguo, Hu Q |
| Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia. Genes 2021 11 12 (11): . Lago Juliana, Groot Helena, Navas Diego, Lago Paula, Gamboa María, Calderón Dayana, Polanía-Villanueva Diana |
| Frequency of Intron 22 Inversion in Severe Hemophilia A Patients. Cureus 2022 9 14 (8): e28247. Ashfaq Javeria, Ahmed Rehana, Tariq Faryal, Abedin Qurat Ul, Abid Madiha, Borhany Muni |
| Genome-Wide Association Study and Gene-Based Analysis of Participants With Hemophilia A and Inhibitors in the My Life, Our Future Research Repository. Frontiers in medicine 2022 7 9 903838. Lessard Samuel, He Chunla, Rajpal Deepak K, Klinger Katherine, Loh Christine, Harris Tim, Dumont Jennif |
| Results of genetic analysis of 11?341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States. Journal of thrombosis and haemostasis : JTH 2022 6 20 (9): 2022-2034. Johnsen Jill M, Fletcher Shelley N, Dove Angela, McCracken Haley, Martin Beth K, Kircher Martin, Josephson Neil C, Shendure Jay, Ruuska Sarah E, Valentino Leonard A, Pierce Glenn F, Watson Crystal, Cheng Dunlei, Recht Michael, Konkle Barbara |
| F8 gene mutation spectrum in severe hemophilia A with inhibitors: A large cohort data analysis from a single center in China. Research and practice in thrombosis and haemostasis 2022 6 6 (4): e12723. Sun Jie, Li Zekun, Huang Kun, Ai Di, Li Gang, Xie Xingjuan, Gu Hao, Liu Guoqing, Zhen Yingzi, Chen Zhenping, Wu Runh |
| Clinical conditions and risk factors for inhibitor-development in patients with haemophilia: A decade-long prospective cohort study in Japan, J-HIS2 (Japan Hemophilia Inhibitor Study 2). Haemophilia : the official journal of the World Federation of Hemophilia 2022 6 28 (5): 745-759. Nogami Keiji, Taki Masashi, Matsushita Tadashi, Kojima Tetsuhito, Oka Toshiaki, Ohga Shouichi, Kawakami Kiyoshi, Sakai Michio, Suzuki Takashi, Higasa Satoshi, Horikoshi Yasuo, Shinozawa Keiko, Tamura Shogo, Yada Koji, Imaizumi Masue, Ohtsuka Yoshitoshi, Iwasaki Fuminori, Kobayashi Masao, Takamatsu Junki, Takedani Hideyuki, Nakadate Hisaya, Matsuo Yoko, Matsumoto Takeshi, Fujii Teruhisa, Fukutake Katsuyuki, Shirahata Akira, Yoshioka Akira, Shima Midori, |
| Combination of CLEC4M rs868875 G-Carriership and ABO O Genotypes May Predict Faster Decay of FVIII Infused in Hemophilia A Patients. Journal of clinical medicine 2022 2 11 (3): . Lunghi Barbara, Morfini Massimo, Martinelli Nicola, Linari Silvia, Castaman Giancarlo, Bernardi Frances |
| Anti-FVIII antibodies in Black and White hemophilia A subjects: do F8 haplotypes play a role? Blood advances 2022 12 . Pratt Kathleen P, Gunasekera Devi, Vir Pooja, Tan Siyuan, Pierce Glenn F, Olsen Cara H, Butenas Saulius, Mann Kenneth |
| The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A. Archives of Iranian medicine 2022 1 24 (12): 887-896. Azadmehr Sarah, Rahiminejad Faezeh, Zafarghandi Motlagh Fatemeh, Jamali Mojdeh, Ghazizadeh Tehrani Pardis, Shirzadeh Tina, Bagherian Hamideh, Karimipoor Morteza, Davoudi-Dehaghani Elham, Zeinali Siro |
| Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A?>?G) Causing a Pathogenic Variant of the Factor 8 Gene. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2023 8 29 10760296231182410. Tarek Owaidah, Salwa Bakr, Nouf Al-Numair, Hala AbaAlkhail, Hazzaa Alzahrani, Mahasen Saleh, Haitham Khogeer, Ahmed Tarawah, Hadeel Akkad, Faisal Al-All |
| Early immune tolerance induction is a unique predictor of favorable outcomes in hemophilia A children with intron 22 inversion and high-responding inhibitors. Thrombosis research 2023 4 226 56-60. Jie Sun, Zekun Li, Gang Li, Guoqing Liu, Wanru Yao, Yingzi Zhen, Zhenping Chen, Runhui |
| Hemophilia A subjects with an intron-22 gene inversion mutation show CD4 T-effector responses to multiple epitopes in FVIII. Frontiers in immunology 2023 3 14 1128641. Gunasekera Devi, Vir Pooja, Karim Ahmad Faisal, Ragni Margaret V, Pratt Kathleen |
| F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project. Research and practice in thrombosis and haemostasis 2023 2 7 (1): 100036. Labarque Veerle, Mancuso Maria Elisa, Kartal-Kaess Mutlu, Ljung Rolf, Mikkelsen Torben S, Andersson Nadine |
| A Scan of Pleiotropic Immune Mediated Disease Genes Identifies Novel Determinants of Baseline FVIII Inhibitor Status in Hemophilia-A. Research square 2023 10 . Tom Howard, Marcio Almieda, Vincent Diego, Kevin Viel, Bernadette Luu, Karin Haack, Rajalingam Raja, Afshin Ameri, Meera Chitlur, Natalia Rydz, David Lillicrap, Raymond Watts, Craig Kessler, Christopher Ramsey, Long Dinh, Benjamin Kim, Jerry Powell, Juan Peralta, Ruayda Bouls, Shirley Abraham, Yu-Min Shen, Carlos Murillo, Henry Mead, Paul Lehmann, Eli Fine, Miguel Escobar, Satish Kumar, Sarah Williams-Blangero, Carol Kasper, Laura Almasy, Shelley Cole, John Blangero, Barbara Konk |
| Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion. Thrombosis journal 2023 10 21 (1): 108. Minh Tam Nguyen, Thanh Tung Nguyen, Duy Bac Nguyen, Thi Mai Nguyen, Kim Ngan Nguyen, Van Nhat Minh Ngo, Van Dieu Nguyen, Ngoc Anh Tran, Mulias Lian, Arnold S C Tan, Samuel S Chong, Tien Truong Da |
| Race, ethnicity, F8 variants, and inhibitor risk: analysis of the "My Life Our Future" hemophilia A database. Journal of thrombosis and haemostasis : JTH 2023 1 . Ahmed Anwar E, Pratt Kathleen |
| Mutational Profile in Romanian Patients with Hemophilia A. International journal of molecular sciences 2024 8 25 (15): . Andra Grigore, Mihaela Dragomir, Onda-Tabita C?lug?ru, Dumitru Jardan, Cerasela Jardan, Melen Brînz?, Paul B?l?nescu, Daniel Cor |
| Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately-severe hemophilia A using a machine-learning network. Journal of thrombosis and haemostasis : JTH 2024 5 . Letícia Lemos Jardim, Tiago A Schieber, Marcio Portugal Santana, Mônica Hermida Cerqueira, Claudia Santos Lorenzato, Vivian Karla Brognoli Franco, Luciana Werneck Zuccherato, Brendon Ayala da Silva Santos, Daniel Gonçalves Chaves, Martín Gomez Ravetti, Suely Meireles Rezen |
| Genotype-dependent response to desmopressin in hemophilia A and proposal of a predictive response score. Thrombosis and haemostasis 2024 5 . Benoit Guillet, Maxime Pawlowski, Pierre Boisseau, Yohann Repesse, Philippe Beurrier, Sophie Bayart, Xavier Delavenne, Marc Trossaërt, Peter J Lenti |
| Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients. Annals of hematology 2024 12 . Jie Wang, Qiang Li, Yan Cheng, Aihui Wang, Cuicui Qiao, Jingru Shao, Tiantian Wang, Hehe Wang, Xueqin Zhang, Man-Chiu Poon, Xinsheng Zhang, Yunhai Fa |
| A Post Hoc Analysis of Previously Untreated Patients With Severe Hemophilia A Who Developed Inhibitors in PUPs A-LONG. Blood advances 2024 1 . Manuel Carcao, Michele Schiavulli, Roshni Kulkarni, Pablo Rendo, Meredith C Foster, Elena Santagostino, Sandra Milena Casiano, Christoph Köni |
- Page last reviewed:Feb 1, 2024
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