Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 237 Records) |
| Query Trace: Hemophilia[original query] |
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| Mutation analysis and characterisation of F9 gene in haemophilia- B population of India. Blood research 2021 12 56 (4): 252-258. Kulkarni Sujayendra, Hegde Rajat, Hegde Smita, Kulkarni Suyamindra S, Hanagvadi Suresh, Das Kusal K, Kolagi Sanjeev, Gai Pramod B, Bulagouda Rudragou |
| [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 |
| Serum TNF-? Level as a Possible Predictor of Inhibitor Levels in Severe Hemophilia A. BioMed research international 2021 11 2021 6483490. Susanah Susi, Raspati Harry, Sari Nur Melani, Rakhmilla Lulu Eva, Sribudiani Yunia, Moestopo Octawyana, Sinaga Puspasari, Idjradinata Ponpon, Maskoen Ani Mela |
| 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 |
| 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, |
| Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease. Croatian medical journal 2022 5 63 (2): 166-175. Lapi? Ivana, Radi? Antolic Margareta, Boban Ana, Coen Herak Desiree, Rogi? Dunja, Zadro Rena |
| BAFF rs9514828 gene polymorphism and the risk of the development of inhibitors in children with severe haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia 2022 3 28 (3): 472-479. Hodeib Hossam, El Amrousy Doaa, Youssef Amira, Elaskary Eman, Fouda Mohamed |
| The Lesson Learned from the New c.2547-1G?>?T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect. Thrombosis and haemostasis 2022 2 122 (9): 1479-1485. Casonato Alessandra, Cozzi Maria Rita, Ferrari Silvia, Rubin Beatrice, Gianesello Lisa, De Marco Luigi, Daidone Vivia |
| Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia 2022 Feb . Spena Silvia, Cairo Andrea, Pappalardo Emanuela, Gorski Marcin M, Garagiola Isabella, Hassan Shermarke, Gualtierotti Roberta, Peyvandi Flo |
| 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 |
| Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect. Haemophilia : the official journal of the World Federation of Hemophilia 2022 12 . Sharma Ritika, Jamwal Manu, Senee Hari Kishan, Singh Namrata, Kumar Narender, Hans Chander, Kler Anita, Bansal Deepak, Trehan Amita, Malhotra Pankaj, Ahluwalia Jasmina, Das Ree |
| 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 |
| Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors. Haemophilia : the official journal of the World Federation of Hemophilia 2022 12 . Lunghi Barbara, Morfini Massimo, Martinelli Nicola, Branchini Alessio, Linari Silvia, Castaman Giancarlo, Bernardi Frances |
| Phenotypic variation in severe hemophilia A is related to endogenous thrombin potential and plasma levels of factor VII. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2022 11 33 (8): 463-467. Chaves Daniel Gonçalves, Fonseca Fernanda Martins Lott, Araújo Hayama Cristina Braga, de Oliveira Larissa Maira Moura, Amorim Marcos Vinicius de Almeida, Assis Neto Carolina Correia, Carvalho Maria das Graç |
| Occurrence of familial Mediterranean fever in haemophilia patients. Haemophilia : the official journal of the World Federation of Hemophilia 2022 11 29 (1): 165-171. Kirkiz Serap, Kaya Zühre, Gönen Sevim, Ya?c? Münci, Koçak Ülk |
| Risk and Management of Intracerebral Hemorrhage in Patients with Bleeding Disorders. Seminars in thrombosis and hemostasis 2022 1 48 (3): 344-355. Dorgalaleh Akbar, Farshi Yadolah, Haeri Kamand, Ghanbari Omid Baradarian, Ahmadi Abb |
| 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 |
| 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, |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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