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

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

卡罗林斯卡基因组医学中心关于罕见病基因组测序的十年报告及分阶段临床实施策略

Lindstrand, Anna; Lagerstedt-Robinson, Kristina; Jemt, Anders; Kvarnung, Malin; Ygberg, Sofia; Vonlanthen, Sofie; Oscarson, Mikael; Nilsson, Daniel; Lesko, Nicole; Mantero, Angelo Salazar; Anderlid, Britt-Marie; Arnell, Henrik; Arthur, Cecilia; Bajalica-Lagercrantz, Svetlana; Barbaro, Michela; Bergman, Peter; Björck, Erik; Picard, Oda Blomqvist; Bruhn, Helene; Carlsten, Jonas; Correia, Sandrina P; De Geer, Karl; Delgado Vega, Angelica M; Ehn, Emma; Eisfeldt, Jesper; Ek, Marlene; Elvers, Ingegerd; Engvall, Martin; Freyer, Christoph; Frisk, Sofia; Graff, Caroline; Grigelioniené, Giedré; Gustafsson, Peter; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström Pigg, Maritta; Henry, Olivia J; Hägglund, Moa; Iwarsson, Erik; Janvid, Vincent; Soller, Maria Johansson; Sundin, Leif; Kuchinskaya, Ekaterina; Kämpe, Anders; Leinfelt, Anna; Liedén, Agne; Lindelöf, Hillevi; Lyander, Anna; Malmgren, Helena; Mannila, Maria; Marits, Per; Naess, Karin; Neethiraj, Ramprasad; Nyren, Karl; Pappas, Christoforos; Paucar, Martin; Pekkola Pacheco, Nadja; Peña Perez, Lucia; Pettersson, Maria; Pruisscher, Peter; Rasi, Chiara; Renevey, Annick; Rössner, Sophia; Sahlin, Ellika; Stenund, Erik; Stödberg, Tommy; Sundin, Mikael; Svärd, Karl; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; Ueberschär, Malin; Wallander, Karin; Westenius, Eini; Winberg, Johanna; Winblad, Nerges; Wincent, Josephine; Winerdal, Malin; Wredenberg, Anna; Zetterlund, Anna; Zetterström, Rolf H; Öfverholm, Ingegerd; Nordgren, Ann; Stranneheim, Henrik; Wirta, Valtteri; Wedell, Anna

Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor

施瓦赫曼-戴蒙德综合征患者的遗传和临床特征,尤其关注粒细胞集落刺激因子治疗

Mellor-Heineke, Sabine; Skokowa, Julia; Gerschmann, Natali; Deordieva, Ekaterina; Tesakov, Ivan; Kinsey, Sally; Klaudel-Dreszler, Maja; Farruggia, Piero; Sukova, Martina; Sundin, Mikael; El Chazli, Yasmine; Masmas, Tania N; Willems, Leen; Ebetsberger-Dachs, Georg; Erichsen, Hans C; Steinberg-Shemer, Orna; Shcherbina, Anna; Welte, Karl; Zeidler, Cornelia

Early transcriptional states of spermatogonia and marker expressions in the prepubertal human testis following chemotherapy-induced depletion.

化疗引起的精原细胞耗竭后青春期前人类睾丸中精原细胞的早期转录状态和标记表达

Ba Omar Hajar, Stevens Justine, Haavisto Anu, Cui Yanhua, Harteveld Femke, Yang Yifan, Bjarnason Ragnar, Romerius Patrik, Sundin Mikael, Nyström Ulrika Norén, Langenskiöld Cecilia, Vogt Hartmut, Frisk Per, Vepsäläinen Kaisa, Petersen Cecilia, Cui Lina, Guo Jingtao, Jahnukainen Kirsi, Stukenborg Jan-Bernd

Hematopoietic stem cell transplantation for pediatric patients with non-anaplastic peripheral T-cell lymphoma. An EBMT pediatric diseases working party study

儿童非间变性外周T细胞淋巴瘤患者的造血干细胞移植:欧洲骨髓移植协会儿科疾病工作组研究

Moser, Olga; Ngoya, Maud; Galimard, Jacques-Emmanuel; Dalissier, Arnaud; Dalle, Jean Hugues; Kalwak, Krzysztof; Wössmann, Wilhelm; Burkhardt, Birgit; Bierings, Marc; Gonzalez-Vicent, Marta; López Corral, Lucía; Mellgren, Karin; Attarbaschi, Andishe; Bourhis, Jean Henri; Carlson, Kristina; Corbacioglu, Selim; Drabko, Katarzyna; Sundin, Mikael; Toporski, Jacek; Cario, Gunnar; Kontny, Udo

An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol

一项探索性开放标签多中心 I/II 期临床试验,旨在评估产后或产前产后联合应用同种异体扩增胎儿间充质干细胞治疗婴幼儿及胎儿重度成骨不全症的安全性和有效性:BOOSTB4 试验方案

Sagar, Rachel L; Åström, Eva; Chitty, Lyn S; Crowe, Belinda; David, Anna L; DeVile, Catherine; Forsmark, Annabelle; Franzen, Vera; Hermeren, Göran; Hill, Melissa; Johansson, Mats; Lindemans, Caroline; Lindgren, Peter; Nijhuis, Wouter; Oepkes, Dick; Rehberg, Mirko; Sahlin, Nils-Eric; Sakkers, Ralph; Semler, O; Sundin, Mikael; Walther-Jallow, Lilian; Verweij, E J T Joanne; Westgren, Magnus; Götherström, Cecilia

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels

病例报告:基于TREC的SCID筛查预计会漏诊IKZF1相关的早发性CID,但可通过测定KREC水平来识别。

Äng, Christofer; Zetterström, Rolf H; Ramme, Kim; Axelsen, Emma; Marits, Per; Sundin, Mikael

Risk factors for a severe disease course in children with SARS-COV-2 infection following hematopoietic cell transplantation in the pre-Omicron period: a prospective multinational Infectious Disease Working Party from the European Society for Blood and Marrow Transplantation group (EBMT) and the Spanish Group of Hematopoietic Stem Cell Transplantation (GETH) study

在 Omicron 方案实施前,接受造血干细胞移植后感染 SARS-CoV-2 的儿童发生重症的危险因素:一项由欧洲血液和骨髓移植学会 (EBMT) 和西班牙造血干细胞移植组 (GETH) 组成的前瞻性多国传染病工作组的研究

Averbuch, Dina; de la Camara, Rafael; Tridello, Gloria; Knelange, Nina Simone; Bykova, Tatiana A; Ifversen, Marianne; Dobsinska, Veronika; Ayas, Mouhab; Hamidieh, Amir Ali; Pichler, Herbert; Perez-Martinez, Antonio; Cesaro, Simone; Sundin, Mikael; Badell, Isabel; Bader, Peter; Johansson, Jan-Erik; Mirci-Danicar, Oana; Sedlacek, Petr; Paillard, Catherine; Gibson, Brenda; Lawson, Sarah; Kroeger, Nicolaus; Corbacioglu, Selim; Mikulska, Malgorzata; Piñana, Jose Luis; Styczynski, Jan; Ljungman, Per

Early testicular maturation is sensitive to depletion of spermatogonial pool in sickle cell disease

镰状细胞病中精原细胞池耗竭会导致睾丸早期成熟。

Benninghoven-Frey, Klara M; Neuhaus, Nina; Lahtinen, Atte K; Krallmann, Claudia; Portela, Joana M D; Jarisch, Andrea; Nordhoff, Verena; Soave, Armin; Ba Omar, Hajar A M; Sundin, Mikael; Langenskiöld, Cecilia; Kliesch, Sabine; Stukenborg, Jan-Bernd; Jahnukainen, Kirsi

A Phase II Trial of a Personalized, Dose-Intense Administration Schedule of (177)Lutetium-DOTATATE in Children With Primary Refractory or Relapsed High-Risk Neuroblastoma-LuDO-N

一项针对原发性难治性或复发性高危神经母细胞瘤患儿的个性化、高剂量(177)镥-DOTATATE给药方案的II期临床试验(LuDO-N)

Sundquist, Fredrik; Georgantzi, Kleopatra; Jarvis, Kirsten Brunsvig; Brok, Jesper; Koskenvuo, Minna; Rascon, Jelena; van Noesel, Max; Grybäck, Per; Nilsson, Joachim; Braat, Arthur; Sundin, Mikael; Wessman, Sandra; Herold, Nikolas; Hjorth, Lars; Kogner, Per; Granberg, Dan; Gaze, Mark; Stenman, Jakob

Early relapse prediction after allogeneic hematopoietic stem cell transplantation for acute lymphoblastic leukemia (ALL) using lineage-specific chimerism analysis

利用谱系特异性嵌合体分析预测急性淋巴细胞白血病(ALL)异基因造血干细胞移植后的早期复发

Lindahl, Hannes; Valentini, Davide; Vonlanthen, Sofie; Sundin, Mikael; Björklund, Andreas T; Mielke, Stephan; Hauzenberger, Dan