日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

ZCCHC8相关端粒生物学疾病的体细胞遗传拯救

de Tocqueville, Sophie; Donaires, Flavia; DeCleene, Nicholas; Ba, Ibrahima; Nouri, Mina; Kermasson, Laëtitia; Chelbi, Malika; Bergot, Emmanuel; Leblanc, Thierry; Borie, Raphael; Philippot, Quentin; Antone, Elise; Prévot, Grégoire; Blanchard, Elodie; Keren, Boris; Lainey, Elodie; Catto, Marilia; Santana, Barbara; Chandrasekharappa, Settara C; Donovan, Frank X; Bazzo Catto, Luiz Fernando; Callebaut, Isabelle; Young, Neal S; Halfon-Domenech, Carine; Calado, Rodrigo T; Bertuch, Alison A; Gutierrez-Rodrigues, Fernanda; Kannengiesser, Caroline; Revy, Patrick

The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia

基础端粒流式FISH检测与详细端粒流式FISH检测在年轻再生障碍性贫血患者中的诊断性能比较

DeCleene, Nicholas F; Nguyen, Duc T; Kirk, Susan E; Helber, Hannah L; Sasa, Ghadir S; Bertuch, Alison A

Eltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial

艾曲波帕联合免疫抑制疗法治疗儿童重型再生障碍性贫血:ESCALATE II期试验

Shimamura, Akiko; Maschan, Alexey; Bennett, Carolyn; Samarasinghe, Sujith; Farrar, Jason E; Li, Chi-Kong; Sirachainan, Nongnuch; Pongtanakul, Bunchoo; Komvilaisak, Patcharee; Zubarovskaya, Ludmila; Rothman, Jennifer A; Walkovich, Kelly; Nakano, Taizo A; Bertuch, Alison A; Ferrao, Anabela; Bhat, Rukhmi; Hanna, Rabi; Overholt, Kathleen; Boklan, Jessica; Wong, Tze Fang; Wang, Qinxia; Urban, Patrick; Strahm, Brigitte; Wang, Winfred; Vlachos, Adrianna; Williams, David A

Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres

不同表型与不同末端——端粒生物学疾病与长端粒相关的癌症易感性

Savage, Sharon A; Bertuch, Alison A

Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy

关于造血系统恶性肿瘤易感儿童监测建议的最新进展

Maese, Luke D; Wlodarski, Marcin W; Kim, Sun Young; Bertuch, Alison A; Bougeard, Gaelle; Chang, Vivian Y; Godley, Lucy A; Khincha, Payal P; Kuiper, Roland P; Lesmana, Harry; McGee, Rose B; McReynolds, Lisa J; Meade, Julia; Plon, Sharon E; Savage, Sharon A; Scollon, Sarah R; Scott, Hamish S; Walsh, Michael F; Nichols, Kim E; Porter, Christopher C

RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair.

RPS19 和 RPL5 是 Diamond Blackfan 贫血症中最常见的突变基因,它们会影响 DNA 双链断裂修复

DeCleene Nicholas F, Asik Elif, Sanchez Anthony, Williams Christopher L, Kabotyanski Elena B, Zhao Na, Chatterjee Nimrat, Miller Kyle M, Wang Yu-Hsiu, Bertuch Alison A

Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes

MECOM相关综合征中除骨髓衰竭外还存在其他表型和血液学异常

Lozano Chinga, Michell M; Bertuch, Alison A; Afify, Zeinab; Dollerschell, Kaylee; Hsu, Joanne I; John, Tami D; Rao, Emily S; Rowe, Robert Grant; Sankaran, Vijay G; Shimamura, Akiko; Williams, David A; Nakano, Taizo A

Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities

不同种族再生障碍性贫血患者中HLA I类等位基因的致病性和影响

Olson, Timothy S; Frost, Benjamin F; Duke, Jamie L; Dribus, Marian; Xie, Hongbo M; Prudowsky, Zachary D; Furutani, Elissa; Gudera, Jonas; Shah, Yash B; Ferriola, Deborah; Dinou, Amalia; Pagkrati, Ioanna; Kim, Soyoung; Xu, Yixi; He, Meilun; Zheng, Shannon; Nijim, Sally; Lin, Ping; Xu, Chong; Nakano, Taizo A; Oved, Joseph H; Carreno, Beatriz M; Bolon, Yung-Tsi; Gadalla, Shahinaz M; Marsh, Steven Ge; Paczesny, Sophie; Lee, Stephanie J; Monos, Dimitrios S; Shimamura, Akiko; Bertuch, Alison A; Gragert, Loren; Spellman, Stephen R; Babushok, Daria V

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

不平衡易位der(1;7)与种系GATA2突变的关联

Kozyra, Emilia J; Göhring, Gudrun; Hickstein, Dennis D; Calvo, Katherine R; DiNardo, Courtney D; Dworzak, Michael; de Haas, Valerie; Starý, Jan; Hasle, Henrik; Shimamura, Akiko; Fleming, Mark D; Inaba, Hiroto; Lewis, Sara; Hsu, Amy P; Holland, Steven M; Arnold, Danielle E; Mecucci, Cristina; Keel, Siobán B; Bertuch, Alison A; Tawana, Kiran; Barzilai, Shlomit; Hirabayashi, Shinsuke; Onozawa, Masahiro; Lei, Shaohua; Alaiz, Helena; Andrikovics, Hajnalka; Betts, David; Beverloo, Berna H; Buechner, Jochen; Čermák, Martin; Cervera, José; Haus, Olga; Jahnukainen, Kirsi; Manola, Kalliopi N; Nebral, Karin; Pasquali, Francesco; Tchinda, Joelle; Turkiewicz, Dominik; Van Roy, Nadine; Zemanova, Zuzana; Pastor, Victor B; Strahm, Brigitte; Noellke, Peter; Niemeyer, Charlotte M; Schlegelberger, Brigitte; Yoshimi, Ayami; Wlodarski, Marcin W

A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium

一项评估将新诊断为重型再生障碍性贫血的儿童和青少年患者随机分配至匹配无关供者骨髓移植组和免疫抑制治疗组可行性的研究:北美儿童再生障碍性贫血联盟和儿童移植与细胞治疗联盟的联合试点试验

Pulsipher, Michael A; Lehmann, Leslie E; Bertuch, Alison A; Sasa, Ghadir; Olson, Timothy; Nakano, Taizo; Gilio, Alfred; Burroughs, Lauri M; Lipton, Jeffrey M; Huang, James N; Dickerson, Kathryn; Bertaina, Alice; Zhuang, Cindy; Malsch, Maggie; Fleming, Mark; Weller, Edie; Shimamura, Akiko; Williams, David A