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

Nachruf Prof. Dr. med. Traute Schroeder-Kurth, geboren in Heidelberg am 16.05.1930, verstorben am 22.08.2025

Nachruf 教授、博士、医学博士。 Traute Schroeder-Kurth,1930年5月16日在海德堡的geboren,2025年8月22日verstorben

Kalb, Reinhard; Höhn, Holger; Schindler, Detlev

BRCA2 Pre-mRNA Differential 5' Splicing: A Rescue of Functional Protein Properties from Pathogenic Gene Variants and a Lifeline for Fanconi Anemia D1 Patients

BRCA2 前体 mRNA 差异性 5' 剪接:从致病基因变异中挽救功能性蛋白质特性,为范可尼贫血 D1 型患者带来希望

Paredes, Roberto; Batta, Kiran; Wiseman, Daniel H; Gothbi, Reham; Dalal, Vineet; Schmidt, Christine K; Kalb, Reinhard; Meyer, Stefan; Schindler, Detlev

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

RAD50错义变异对DNA损伤反应和有丝分裂进程的影响各不相同。

Redeker, Hanna; Kebel, Swantje; Völkening, Lea; Vatselia, Anna; Weinhold, Louisa; Asgedom, Girmay; Schambach, Axel; Schindler, Detlev; Dörk, Thilo; Bousset, Kristine

Author Correction: Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress

作者更正:Brca2 和 Rad51c 双突变低表达小鼠表现出范可尼贫血、癌症和多基因复制应激

Tomaszowski, Karl-Heinz; Roy, Sunetra; Guerrero, Carolina; Shukla, Poojan; Keshvani, Caezaan; Chen, Yue; Ott, Martina; Wu, Xiaogang; Zhang, Jianhua; DiNardo, Courtney D; Schindler, Detlev; Schlacher, Katharina

A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation

深内含子突变通过一种不寻常的远端外显子激活机制导致 RAD50 缺陷。

Bousset, Kristine; Donega, Stefano; Ameziane, Najim; Fleischhammer, Tabea; Ramachandran, Dhanya; Poley-Gil, Miriam; Schindler, Detlev; van de Laar, Ingrid M; Pagani, Franco; Dörk, Thilo

Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia-A Nationwide Register-Based Cohort Study in Germany

德国一项基于全国登记数据的队列研究:范可尼贫血和毛细血管扩张性共济失调患儿癌症的发生率

Dutzmann, Christina M; Spix, Claudia; Popp, Isabell; Kaiser, Melanie; Erdmann, Friederike; Erlacher, Miriam; Dörk, Thilo; Schindler, Detlev; Kalb, Reinhard; Kratz, Christian P

Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome

一名患有布鲁姆综合征的男孩罹患伴有TPM3-NTRK1融合基因的婴儿纤维肉瘤

Huson, Sue M; Staab, Timo; Pereira, Marta; Ward, Heather; Paredes, Roberto; Evans, D Gareth; Baumhoer, Daniel; O'Sullivan, James; Cheesman, Ed; Schindler, Detlev; Meyer, Stefan

Correction to: Infantile fibrosarcoma with TPN3-NTRK3 fusion in a boy with Bloom Syndrome

更正:患有布鲁姆综合征的男孩罹患伴有TPN3-NTRK3融合基因的婴儿纤维肉瘤

Huson, Sue M; Staab, Timo; Pereira, Marta; Ward, Heather; Paredes, Roberto; Evans, D Gareth; Baumhoer, Daniel; O'Sullivan, James; Cheesman, Ed; Schindler, Detlev; Meyer, Stefan

A novel classification of hematologic conditions in patients with Fanconi anemia

范可尼贫血患者血液系统疾病的新分类

Behrens, Yvonne Lisa; Göhring, Gudrun; Bawadi, Randa; Cöktü, Sümeyye; Reimer, Christina; Hoffmann, Beatrice; Sänger, Birte; Käfer, Simon; Thol, Felicitas; Erlacher, Miriam; Niemeyer, Charlotte M; Baumann, Irith; Kalb, Reinhard; Schindler, Detlev; Kratz, Christian Peter

Two truncating variants in FANCC and breast cancer risk

FANCC基因中的两个截断变异与乳腺癌风险

Dörk, Thilo; Peterlongo, Paolo; Mannermaa, Arto; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Ahearn, Thomas; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Freeman, Laura E Beane; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Behrens, Sabine; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Canzian, Federico; Chan, Tsun L; Chang-Claude, Jenny; Chanock, Stephen J; Choi, Ji-Yeob; Christiansen, Hans; Clarke, Christine L; Couch, Fergus J; Czene, Kamila; Daly, Mary B; Dos-Santos-Silva, Isabel; Dwek, Miriam; Eccles, Diana M; Ekici, Arif B; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Fritschi, Lin; Gabrielson, Marike; Gago-Dominguez, Manuela; Gao, Chi; Gapstur, Susan M; García-Closas, Montserrat; García-Sáenz, José A; Gaudet, Mia M; Giles, Graham G; Goldberg, Mark S; Goldgar, David E; Guénel, Pascal; Haeberle, Lothar; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Hamann, Ute; Hartman, Mikael; Hauke, Jan; Hein, Alexander; Hillemanns, Peter; Hogervorst, Frans B L; Hooning, Maartje J; Hopper, John L; Howell, Tony; Huo, Dezheng; Ito, Hidemi; Iwasaki, Motoki; Jakubowska, Anna; Janni, Wolfgang; John, Esther M; Jung, Audrey; Kaaks, Rudolf; Kang, Daehee; Kapoor, Pooja Middha; Khusnutdinova, Elza; Kim, Sung-Won; Kitahara, Cari M; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N; Kwong, Ava; Lambrechts, Diether; Marchand, Loic Le; Li, Jingmei; Lindström, Sara; Linet, Martha; Lo, Wing-Yee; Long, Jirong; Lophatananon, Artitaya; Lubiński, Jan; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martinez, Elena; Matsuo, Keitaro; Mavroudis, Dimitris; Meindl, Alfons; Menon, Usha; Milne, Roger L; Mohd Taib, Nur Aishah; Muir, Kenneth; Mulligan, Anna Marie; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Newman, William G; Offit, Kenneth; Olopade, Olufunmilayo I; Olshan, Andrew F; Olson, Janet E; Olsson, Håkan; Park, Sue K; Park-Simon, Tjoung-Won; Peto, Julian; Plaseska-Karanfilska, Dijana; Pohl-Rescigno, Esther; Presneau, Nadege; Rack, Brigitte; Radice, Paolo; Rashid, Muhammad U; Rennert, Gad; Rennert, Hedy S; Romero, Atocha; Ruebner, Matthias; Saloustros, Emmanouil; Schmidt, Marjanka K; Schmutzler, Rita K; Schneider, Michael O; Schoemaker, Minouk J; Scott, Christopher; Shen, Chen-Yang; Shu, Xiao-Ou; Simard, Jacques; Slager, Susan; Smichkoska, Snezhana; Southey, Melissa C; Spinelli, John J; Stone, Jennifer; Surowy, Harald; Swerdlow, Anthony J; Tamimi, Rulla M; Tapper, William J; Teo, Soo H; Terry, Mary Beth; Toland, Amanda E; Tollenaar, Rob A E M; Torres, Diana; Torres-Mejía, Gabriela; Troester, Melissa A; Truong, Thérèse; Tsugane, Shoichiro; Untch, Michael; Vachon, Celine M; Ouweland, Ans M W van den; Veen, Elke M van; Vijai, Joseph; Wendt, Camilla; Wolk, Alicja; Yu, Jyh-Cherng; Zheng, Wei; Ziogas, Argyrios; Ziv, Elad; Dunning, Alison M; Pharoah, Paul D P; Schindler, Detlev; Devilee, Peter; Easton, Douglas F