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

Unique hematological presentation of patients with biallelic inactivation of FANCD1/BRCA2

FANCD1/BRCA2双等位基因失活患者的独特血液学表现

Niewisch, Marena R; Dierolf, Michelle; Herba, Anna B; Thol, Felicitas; Reimann, Christian; Popp, Isabell; Holzhauer, Susanne; Behrens, Yvonne L; Rohde, Marius; Leyh, Jörg; Kühnle, Ingrid; Dilloo, Dagmar; Stiefel, Martina; Schwarz-Furlan, Stephan; Baumann, Irith; Kalb, Reinhard; Kratz, Christian P

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

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1、BRCA2 和 PALB2 相关范可尼贫血:拓展疾病表型特征并预测杂合子乳腺癌风险的潜力

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Long-term outcomes of patients with refractory cytopenia of childhood under observation only

仅观察儿童难治性血细胞减少症患者的长期预后

Drexler, Beatrice; Schwarz-Furlan, Stephan; Baumann, Irith; Rudelius, Martina; Nöllke, Peter; Lebrecht, Dirk; Ramamoorthy, Senthilkumar; Rotari, Natalia; Karow, Axel; Hirabayashi, Shinsuke; Beier, Fabian; Behrens, Yvonne Lisa; Göhring, Gudrun; Kalb, Reinhard; Wlodarski, Marcin W; Strahm, Brigitte; Erlacher, Miriam; Niemeyer, Charlotte M; Yoshimi, Ayami

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

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

对 BRCA1、BRCA2 和 PALB2 相关范可尼贫血症的分析表明,可以扩展疾病表型特征并预测杂合子患乳腺癌的风险。

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; Garcia-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; de la Hoya, Miguel; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

生殖系双等位基因BRCA2致病变异与髓母细胞瘤:一项国际队列研究

Kastellan, Svenja; Kalb, Reinhard; Sajjad, Bia; McReynolds, Lisa J; Giri, Neelam; Samuel, David; Milde, Till; Elbracht, Miriam; Holzhauer, Susanne; Niewisch, Marena R; Kratz, Christian P

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

PR-DUB preserves Polycomb repression by preventing excessive accumulation of H2Aub1, an antagonist of chromatin compaction

PR-DUB通过阻止染色质压缩拮抗剂H2Aub1的过度积累来维持Polycomb抑制作用。

Bonnet, Jacques; Boichenko, Iulia; Kalb, Reinhard; Le Jeune, Mathilde; Maltseva, Svetlana; Pieropan, Mattia; Finkl, Katja; Fierz, Beat; Müller, Jürg

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