Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 255 Records) |
| Query Trace: Hemophilia[original query] |
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| 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 |
| Investigation of the Bleeding Tendency in Sudanese Female Carriers of Hemophilia B. BioMed research international 2022 7 2022 6756130. Abker Ismail Ali Abdallah, Elzaki Salaheldein G, Elmahdi Salih Abdelgader, Tayrab Jowaria Eltayeb, Ahmed Samia Mahdi, Tayrab Eltay |
| 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 |
| Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease. Genes 2022 6 13 (6): . Naveed Muhammad Asif, Abid Aiysha, Ali Nadir, Hassan Yaqoob, Amar Ali, Javed Aymen, Qamar Khansa, Mustafa Ghulam, Raza Ali, Saleem Umera, Hussain Shabbir, Shakoor Madiha, Khaliq Shagufta, Mohsin Shahi |
| Association of Genetic Variant FVIII Gene and Factor VIII: A Pilot Study Among Hemophilia A Female Relatives in Saudi Arabia. Cureus 2023 8 15 (7): e42038. Abdullah T Almohammadi, Osman Radhwi, Hatem AlAhwal, Ahmed Barefah, Salem Bahashwan, Ibraheem M Ashankyty, Majed Almashjari, Rawan Ayaz, Adel Al-Marzouki, Galila F Zaher, Hend Hussain, Abeer A Samman, Abeer Zakariy |
| 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 |
| Analysis of Macrophage Migration Inhibitory Factor Genotype in Hemophilia a Patients. Hematology/oncology and stem cell therapy 2023 6 16 (4): 420-425. Murtadha A Hadi, Wijdan N Ibrahim, Meaad K Hass |
| Impact of timing of prophylaxis commencement, F8 genotype and age on factor consumption and health-related quality of life in patients with severe haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia 2023 5 . Alexandros Arvanitakis, Pål Andre Holme, Erik Berntorp, Jan Asterma |
| 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 |
| Heterogeneity in the half-life of factor VIII concentrate in patients with hemophilia A is due to variability in the clearance of endogenous von Willebrand factor. Journal of thrombosis and haemostasis : JTH 2023 2 . Elsheikh Einas, Lavin Michelle, Heck Lilian Antunes, Larkin Niamh, Mullaney Brendan, Doherty Dearbhla, Kennedy Megan, Keenan Catriona, Guest Thomas, O'Mahony Brian, Fazavana Judicael, Fallon Padraic G, Preston Roger J S, Gormley John, Ryan Kevin, O'Connell Niamh M, Singleton Evelyn, Byrne Mary, McGowan Mark, Roche Sheila, Doyle Mairead, Crowley Maeve P, O'Shea Susan I, Reipert Birgit M, Johnsen Jill M, Pipe Steven W, Di Paola Jorge, Turecek Peter L, O'Donnell James S, |
| Observational cohort study of long-term outcomes of liver transplantation in haemophilia. Haemophilia : the official journal of the World Federation of Hemophilia 2023 12 . Margaret V Ragni, Jessica Callis, Nabil Daoud, Brian Hu, Matthew Manuel, Jarren Santos, Jonathan Schwartz, Kenneth D Friedman, Peter Kouides, Philip Kuriakose, Andrew D Leavitt, Ming Y Lim, Nicoletta Machin, Michael Recht, Tammuella Chrisentery-Singlet |
| Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing. International journal of molecular sciences 2023 11 24 (22): . Jose Pardos-Gea, Laura Martin-Fernandez, Laia Closa, Ainara Ferrero, Cristina Marzo, Manuel Rubio-Rivas, Francesca Mitjavila, José Ramón González-Porras, José María Bastida, José Mateo, Marina Carrasco, Ángel Bernardo, Itziar Astigarraga, Reyes Aguinaco, Irene Corrales, Iris Garcia-Martínez, Francisco Vid |
| 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 |
| Factor VIII genotype and the risk of developing high-responding or low-responding inhibitors in severe hemophilia A: data from the PedNet Hemophilia Cohort of 1,202 children. Haematologica 2023 10 . Nadine G Andersson, Veerle Labarque, Mutlu Kartal-Kaess, Fernando Pinto, Torben Stamm Mikkelsen, Rolf Ljung, PedNet Study Gro |
| 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 |
| Genetic Analysis of Alpha-Thalassemia Mutations in Thi-Gar Province, Iraq. Archives of Razi Institute 2023 1 77 (3): 976-980. Odah Al-Musawi A H, Jumaah Alhussna A, Hussein Jalood |
| Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients. Journal of thrombosis and haemostasis : JTH 2023 1 . Dericquebourg Amy, Fretigny Mathilde, Chatron Nicolas, Tardy Brigitte, Zawadzki Christophe, Chambost Hervé, Vinciguerra Christine, Jourdy Yoha |
| 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 |
| Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause. Haemophilia : the official journal of the World Federation of Hemophilia 2024 9 . Eva Leinøe, Halla Fridriksdottir, Andreas Ørslev Rasmussen, Eva Funding, Anne Louise Tølbøll Sørensen, Peter Kampmann, Jens Lykkesfeldt, Maria Rossi |
| Use of antidepressant and antipsychotic drugs in subjects with hemophilia of the Umbria Region in the period 2011-2022. Annali dell'Istituto superiore di sanita 2024 9 60 (3): 208-215. Giuseppe Marano, Romano Arcieri, Rosalba Elisabetta Rocchi, Arianna Annunziata, Maria Cutillo, Giampaolo Bucaneve, Roberto Da Cas, Mariangela Ros |
| The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation. Molecular genetics & genomic medicine 2024 9 12 (9): e2495. Purevdorj Munkhuu, Munkhtsetseg Bazarragchaa, Purevdorj Ichinkhorloo, Ki-Young Yoo, Enkh-Amar Ayush, Ochbadrakh Batjargal, Erdenebayar Namjil, Sarantuya Jav, Erkhembulgan Purevdorj, Sodnomtsogt Lkhagvasur |
| 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 |
| Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2024 7 63 (4): 103962. Arash Ahmadfard Moghadam, Amir Reza Manafzadeh, Khadijeh Dajliry, Farahnaz Ramezan, Mohammad Reza Nikoonia, Babak Abdolkarimi, Mohsen Hamidpour, Shadi Tabibi |
| 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 |
| [Pharmacokinetic Study of Coagulation Factor ? in Adults with Severe Hemophilia A]. Zhongguo shi yan xue ye xue za zhi 2024 10 32 (5): 1509-1517. Ying Zhang, Zhi-Fang Guo, Jing-Jing Wang, Wen-Liang Lu, Jin-Yu Hao, Xin Wang, Zhi-Juan Pan, Yan-Ru Guo, Xin-Lei Guo, Jia-Jia Sun, Bo Jiang, Zhi Li, Zhi-Ping G |
| 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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