Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 36 Records) |
Query Trace: Paroxysmal Nocturnal Hemoglobinuria[original query] |
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Genetic variants in C5 and poor response to eculizumab. The New England journal of medicine 2014 Feb 370 (7): 632-9. Nishimura Jun-ichi, Yamamoto Masaki, Hayashi Shin, Ohyashiki Kazuma, Ando Kiyoshi, Brodsky Andres L, Noji Hideyoshi, Kitamura Kunio, Eto Tetsuya, Takahashi Toru, Masuko Masayoshi, Matsumoto Takuro, Wano Yuji, Shichishima Tsutomu, Shibayama Hirohiko, Hase Masakazu, Li Lan, Johnson Krista, Lazarowski Alberto, Tamburini Paul, Inazawa Johji, Kinoshita Taroh, Kanakura Yuzu |
Acquired somatic mutations of isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) in preleukemic disorders. Blood cells, molecules & diseases 2015 Mar 54 (3): 286-91. Chotirat Sadudee, Thongnoppakhun Wanna, Wanachiwanawin Wanchai, Auewarakul Chirayu |
Extravascular hemolysis and complement consumption in Paroxysmal Nocturnal Hemoglobinuria patients undergoing eculizumab treatment. Immunobiology 2016 Sep . Subías Hidalgo Marta, Martin Merinero Hector, López Alicia, Anter Jaouad, García Sheila Pinto, Ataúlfo Gonzalez-Fernández Fernando, Forés Rafael, Lopez-Trascasa Margarita, Villegas Ana, Ojeda Emilio, Rodríguez de Córdoba Santia |
Genetic variants of C5 and polymorphisms of C3 in Chinese patients with paroxysmal nocturnal hemoglobinuria. International journal of laboratory hematology 2016 Aug 38 (4): e84-5. Du Y, Zhang Q, Han |
Clonal hematopoiesis in acquired aplastic anemia. Blood 2016 Apr . Ogawa Seis |
[The preliminary research in paroxysmal nocturnal hemoglobinuria with thrombosis]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2016 Apr 37 (4): 318-23. Du Y L, Long Z B, Xie H Y, Zhuang J L, Han |
Biomarkers for predicting clinical response to immunosuppressive therapy in aplastic anemia. International journal of hematology 2016 Apr . Narita Atsushi, Kojima Sei |
Role of vitamin D receptor gene polymorphisms in aplastic anemia: a case-control study from China. International journal of laboratory hematology 2016 Mar . Yu W, Ge M, Shi J, Li X, Zhang J, Wang M, Shao Y, Zheng |
Polymorphism of the ABO gene associate with thrombosis risk in patients with paroxysmal nocturnal hemoglobinuria. Oncotarget 2017 Nov 8 (54): 92411-92419. Long Zhangbiao, Du Yali, Li Hongmin, Han Bi |
Prothrombotic mechanisms in patients with congenital p.Cys89Tyr mutation in CD59. Thrombosis research 2018 6 168 67-77. Tabib Adi, Hindi Issam, Karbian Netanel, Zelig Orly, Falach Batla, Mevorach Dr |
CR1 gene polymorphisms in Chinese patients with paroxysmal nocturnal hemoglobinuria. Gene 2018 Mar . Long Zhangbiao, Du Yali, Li Hongmin, Han Bi |
Frequent STAT3 mutations in CD8 T cells from patients with pure red cell aplasia. Blood advances 2018 10 2 (20): 2704-2712. Kawakami Toru, Sekiguchi Nodoka, Kobayashi Jun, Imi Tatsuya, Matsuda Kazuyuki, Yamane Taku, Nishina Sayaka, Senoo Yasushi, Sakai Hitoshi, Ito Toshiro, Koizumi Tomonobu, Hirokawa Makoto, Nakao Shinji, Nakazawa Hideyuki, Ishida Fumihi |
Analysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH). Experimental hematology & oncology 2019 8 8 17. Lobry Camille, Bains Ashish, Zamechek Leah B, Ibrahim Sherif, Aifantis Iannis, Araten David |
Comparative study on baseline clinical characteristics of Asian versus non-Asian patients with paroxysmal nocturnal hemoglobinuria. International journal of hematology 2019 Jul . Sakurai Masatoshi, Jang Jun Ho, Chou Wen-Chien, Kim Jin Seok, Wilson Amanda, Nishimura Jun-Ichi, Chiou Tzeon-Jye, Kanakura Yuzuru, Lee Jong Wook, Okamoto Shinichi |
Abnormal expression and mutation of the RBPJ gene may be involved in CD59 clonal proliferation in paroxysmal nocturnal hemoglobinuria. Experimental and therapeutic medicine 2019 5 17 (6): 4536-4546. Li Liyan, Liu Hui, Wang Honglei, Liu Zhaoyun, Chen Yingying, Li Lijuan, Song Jia, Wang Guojin, Fu Ro |
Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: Evaluation of PIGA Mutations and T-cell Receptor Clonality. Annals of laboratory medicine 2019 5 39 (5): 438-446. Park Joonhong, Kim Myungshin, Kim Yonggoo, Han Kyungja, Chung Nack Gyun, Cho Bin, Lee Sung Eun, Lee Jong Wo |
Screening for paroxysmal nocturnal hemoglobinuria (PNH) in patients presenting with cerebral sinovenous thrombosis (CSVT): Results of a FLAER based flowcytometry study in Indian patients. Journal of thrombosis and thrombolysis 2019 11 49 (4): 584-590. Sharma Saniya, Ahluwalia Jasmina, Atreja Charu Batra, Modi Manish, Sachdeva Manupdesh Singh, Kumar Narender, Bose Parveen, Bose Sunil Kumar, Uppal Varun, Lal Vivek, Varma Neel |
Prevalence of prothrombotic factors in patients with Budd-Chiari syndrome or non-cirrhotic nonmalignant portal vein thrombosis: A hospital-based observational study. Journal of gastroenterology and hepatology 2019 11 35 (7): 1215-1222. Fan Jiahao, Wang Qiuhe, Luo Bohan, Chen Hui, Wang Zhengyu, Niu Jing, Yuan Jie, Yuan Xulong, Bai Wei, He Chuangye, Guo Wengang, Li Kai, Yin Zhanxin, Fan Daiming, Han Guoho |
Polycythemia Vera Presenting With Normal Hemoglobin and Hematocrit: A Rare Variant. Cureus 2020 7 12 (6): e8404. Erdinc Burak, Ramachandran Preethi, Boris Avezbakiy |
Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria. International journal of laboratory hematology 2020 5 42 (4): 473-481. Li Jing, Lin Yani, Chen Long, Qin Li, Tan Hao, Zou Junyan, Zhang Donglei, Nie Yanbo, Wang Guangjuan, Zhang Hong, Liu Enbin, Chen Xuejing, Ru K |
The utility of thrombophilia testing in patients with newly diagnosed portal vein thrombosis. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2020 2 31 (3): 213-218. Tremblay Douglas, Naymagon Leonard, Troy Kevin, Cromwell Caroline, Edwards Colleen, Schiano Thomas, Kremyanskaya Marina, Mascarenhas Jo |
Ultradeep Sequencing Analysis of Paroxysmal Nocturnal Hemoglobinuria Clones Detected by Flow Cytometry: PIG Mutation in Small PNH Clones. American journal of clinical pathology 2020 12 156 (1): 72-85. Jeong Dajeong, Park Hee Sue, Kim Sung-Min, Im Kyongok, Yun Jiwon, Lee Young Eun, Ryu Sohee, Ahn Yong-Oon, Yoon Sung-Soo, Lee Dong So |
Clinical and prognostic significance of small paroxysmal nocturnal hemoglobinuria clones in myelodysplastic syndrome and aplastic anemia. Leukemia 2021 3 35 (11): 3223-3231. Fattizzo Bruno, Ireland Robin, Dunlop Alan, Yallop Deborah, Kassam Shireen, Large Joanna, Gandhi Shreyans, Muus Petra, Manogaran Charles, Sanchez Katy, Consonni Dario, Barcellini Wilma, Mufti Ghulam J, Marsh Judith C W, Kulasekararaj Austin |
[Clinical significance of detecting human leukocyte antigen class I allele-lacking leukocytes in aplastic anemia]. [Rinsho ketsueki] The Japanese journal of clinical hematology 2022 9 63 (8): 899-905. Hosokawa Kohei, Nakao Shin |
Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 9 41 (1): 132-142. Gurnari Carmelo, Pagliuca Simona, Prata Pedro Henrique, Galimard Jacques-Emmanuel, Catto Luiz Fernando B, Larcher Lise, Sebert Marie, Allain Vincent, Patel Bhumika J, Durmaz Arda, Pinto Andre L, Inacio Mariana C B, Hernandez Lucie, Dhedin Nathalie, Caillat-Zucman Sophie, Clappier Emmanuelle, Sicre de Fontbrune Flore, Voso Maria Teresa, Visconte Valeria, Peffault de Latour Régis, Soulier Jean, Calado Rodrigo T, Socié Gérard, Maciejewski Jaroslaw |
[Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2023 9 44 (7): 561-566. Y Y Chen, H Liu, L Y Li, L J Li, H Q Wang, J Song, Y H Wu, J Guan, L M Xing, G J Wang, W Qu, H Liu, X M Wang, Z H Shao, R |
Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. Multidisciplinary respiratory medicine 2023 7 18 (1): 909. Martina Doubková, Zuzana Vrzalová, Marianna Štefániková, Libor ?ervinek, Kate?ina Sta?o Kozubík, Ivona Blaháková, Šárka Pospíšilová, Michael Doub |
Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria. HemaSphere 2023 4 7 (5): e874. Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer, Margherita Vieri, Kim Kricheldorf, Angela Maurer, Uwe Platzbecker, Markus Radsak, Philippe Schafhausen, Selim Corbacioglu, Britta Höchsmann, C Matthias Wilk, Claas Hinze, Jörg Chromik, Michael Heuser, Michael Kreuter, Steffen Koschmieder, Jens Panse, Susanne Isfort, Ingo Kurth, Tim H Brümmendorf, Fabian Bei |
Rare Germline Complement Factor H Variants in Patients with Paroxysmal Nocturnal Hemoglobinuria. Blood 2023 1 . Prata Pedro Henrique, Galimard Jacques-Emmanuel, Sicre de Fontbrune Flore, Duval Anna, Vieira-Martins Paula, Roncelin Stephane, Debureaux Pierre-Edouard, Lepretre Anne Claire, Larcher Lise, Birsen Rudy, Benhamou Ygal, Soulier Jean, Socie Gérard, Fremeaux-Bacchi Véronique, Peffault de Latour Rég |
Comparison of human leukocyte antigen in patients with paroxysmal nocturnal hemoglobinuria of different clone sizes. Annals of hematology 2024 4 . Zhuxin Zhang, Qinglin Hu, Chen Yang, Miao Chen, Bing H |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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