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

PUMA-induced apoptosis drives bone marrow failure and genomic instability in telomerase-deficient mice

PUMA诱导的细胞凋亡导致端粒酶缺陷小鼠出现骨髓衰竭和基因组不稳定。

Molnar, Christian; Rajak, Jovana; Weiss, Julia Miriam; Gonzalez-Menendez, Irene; Andrieux, Geoffroy; Schreiber, Franziska; Kornemann, Eva-Maria; Wendeburg, Lena; Göhring, Gudrun; Strahm, Brigitte; Beier, Fabian; Steinemann, Doris; Börries, Melanie; Rudelius, Martina; Quintanilla-Martinez, Leticia; Niemeyer, Charlotte M; Niewisch, Marena R; Labi, Verena; Bohler, Sheila; Erlacher, Miriam

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

Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder

对患有端粒生物学疾病的家族中罕见和常见的TERT变异进行详细评估

Zeigler, Logan P; Florez-Vargas, Oscar; Altintas, Burak; Niewisch, Marena R; Zhou, Weiyin; Giri, Neelam; Rafati, Maryam; Poeschla, Michael; Sankaran, Vijay G; Lai, Tsung-Po; Aviv, Abraham; Jones, Kristine; Luo, Wen; Liu, Jia; McReynolds, Lisa J; Zhao, Tianna; Prokunina-Olsson, Ludmila; Savage, Sharon A

Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders

端粒生物学疾病中的无血管性坏死和轻微创伤性骨折

Niknafs, Arman M; Giri, Neelam; Niewisch, Marena R; Savage, Sharon A

Polygenic modifiers impact penetrance and expressivity in telomere biology disorders

多基因修饰因子影响端粒生物学疾病的穿透率和表达度

Poeschla, Michael; Arora, Uma P; Walne, Amanda; McReynolds, Lisa J; Niewisch, Marena R; Giri, Neelam; Zeigler, Logan P; Gusev, Alexander; Machiela, Mitchell J; Tummala, Hemanth; Savage, Sharon A; Sankaran, Vijay G

Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation

端粒生物学疾病中的种系PARN变异及变异注释的挑战

Nurelegne, Hasset T; Thompson, Mone't B; de Andrade, Kelvin C; Thompson, Ashley S; McReynolds, Lisa J; Niewisch, Marena R; Savage, Sharon A

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

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

克隆图谱和端粒生物学疾病的临床结果:体细胞拯救和癌症突变

Gutierrez-Rodrigues, Fernanda; Groarke, Emma M; Thongon, Natthakan; Rodriguez-Sevilla, Juan Jose; Catto, Luiz Fernando B; Niewisch, Marena R; Shalhoub, Ruba; McReynolds, Lisa J; Clé, Diego V; Patel, Bhavisha A; Ma, Xiaoyang; Hironaka, Dalton; Donaires, Flávia S; Spitofsky, Nina; Santana, Barbara A; Lai, Tsung-Po; Alemu, Lemlem; Kajigaya, Sachiko; Darden, Ivana; Zhou, Weiyin; Browne, Paul V; Paul, Subrata; Lack, Justin; Young, David J; DiNardo, Courtney D; Aviv, Abraham; Ma, Feiyang; De Oliveira, Michel Michels; de Azambuja, Ana Paula; Dunbar, Cynthia E; Olszewska, Malgorzata; Olivier, Emmanuel; Papapetrou, Eirini P; Giri, Neelam; Alter, Blanche P; Bonfim, Carmem; Wu, Colin O; Garcia-Manero, Guillermo; Savage, Sharon A; Young, Neal S; Colla, Simona; Calado, Rodrigo T

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders

端粒生物学紊乱患者的基因型及其相关的癌症风险

Niewisch, Marena R; Kim, Jung; Giri, Neelam; Lunger, Judith C; McReynolds, Lisa J; Savage, Sharon A

Liver disease and transplantation in telomere biology disorders: An international multicenter cohort

端粒生物学疾病中的肝病和肝移植:一项国际多中心队列研究

Wang, YunZu Michele; Kaj-Carbaidwala, Batul; Lane, Adam; Agarwal, Suneet; Beier, Fabian; Bertuch, Alison; Borovsky, Kristin A; Brennan, Steven K; Calado, Rodrigo T; Catto, Luiz Fernando B; Dufour, Carlo; Ebens, Christen L; Fioredda, Francesca; Giri, Neelam; Gloude, Nicholas; Goldman, Frederick; Hertel, Paula M; Himes, Ryan; Keel, Sioban B; Koura, Divya T; Kratz, Christian P; Kulkarni, Sakil; Liou, Iris; Nakano, Taizo A; Nastasio, Silvia; Niewisch, Marena R; Penrice, Daniel D; Sasa, Ghadir S; Savage, Sharon A; Simonetto, Douglas A; Ziegler, David S; Miethke, Alexander G; Myers, Kasiani C