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

Constitutional BRCA1 Methylation is associated with high level of tumoral BRCA1 methylation and homologous recombination deficiency in triple-negative breast cancer

BRCA1基因甲基化与三阴性乳腺癌中肿瘤BRCA1基因高甲基化水平和同源重组缺陷相关

Pasanisi, Justine; Lamy, Constance; Lecompte, Lolita; Vacher, Sophie; Schwartz, Mathias; Hamza, Abderaouf; Caputo, Sandrine M; Ibadioune, Sabrina; Courtois, Laura; Berger, Frédérique; Cockenpot, Vincent; Baulande, Sylvain; Pierga, Jean-Yves; Callens, Celine; Melaabi, Samia; Colas, Chrystelle; Pasmant, Eric; Kamal, Maud; Dupain, Célia; Servant, Nicolas; Le Tourneau, Christophe; Bièche, Ivan

611. Ethical Considerations in Treating Self- inflicted Burns: Impact on Healthcare Providers

611. 治疗自残烧伤的伦理考量:对医疗保健提供者的影响

Downs, Jenny; Géranton, Sandrine M; Bebbington, Ami; Jacoby, Peter; Bahi-Buisson, Nadia; Ravine, David; Leonard, Helen; Honea, Ashley E; Gerrek, Monica L; Lambrix, Marcie A; Rees-Jones, Angharad; Rodda, Mary Rose E; Brown, Nathan H; Lennard, Shana; Roberts, Tamara L; Islas, Claudia; Whetten, Erica; Richey, Karen J; Foster, Kevin N

Analgesia through FKBP51 inhibition at disease onset confers lasting relief from sensory and emotional chronic pain symptoms.

在疾病发作时通过抑制 FKBP51 来达到镇痛效果,可以持久缓解感觉和情绪方面的慢性疼痛症状。

Hestehave Sara, Florea Roxana, Singleton Samuel, Fedorec Alex J H, Caxaria Sara, Morgan Oakley B, Kopp Katharina Tatjana, Brown Laurence A, Heymann Tim, Sikandar Shafaq, Hausch Felix, Peirson Stuart N, Géranton Sandrine M

Transcriptional changes across tissue and time provide molecular insights into a therapeutic window of opportunity following traumatic stress exposure.

组织和时间上的转录变化为创伤应激暴露后的治疗机会窗口提供了分子层面的见解

McKibben Lauren A, Iyer Meghna, Zhao Ying, Florea Roxana, Kuhl-Chimera Sophia, Deliwala Ishani, Pan Yue, Branham Erica M, Géranton Sandrine M, McLean Samuel A, Linnstaedt Sarah D

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

BRCA1 基因的创始外显子重复,其断点位于 T2T 参考基因组特异性区域,导致产生构成性融合转录本。

Schwartz, Mathias; Filser, Mathilde; Merchadou, Kevin; Lemaitre, Elisa; Abidallah, Khadija; Tenreiro, Henrique; Dubois D'enghien, Catherine; Rapinat, Audrey; Pierre-Noel, Elise; Suybeng, Voreak; Espenel, Marion; Baulande, Sylvain; Adams, Séverine; Remenieras, Audrey; Renaud, Crystal; Aucouturier, Camille; Delnatte, Capucine; Garrec, Céline; Renault, Victor; Golmard, Lisa; Fourme, Emmanuelle; Masliah-Planchon, Julien; Caputo, Sandrine M

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

作者更正:BRCA1 基因创始人外显子重复导致 T2T 参考基因组特异性区域断点,从而产生构成性融合转录本。

Schwartz, Mathias; Filser, Mathilde; Merchadou, Kevin; Lemaitre, Elisa; Abidallah, Khadija; Tenreiro, Henrique; Dubois D'enghien, Catherine; Rapinat, Audrey; Pierre-Noel, Elise; Suybeng, Voreak; Espenel, Marion; Baulande, Sylvain; Adams, Séverine; Remenieras, Audrey; Renaud, Crystal; Aucouturier, Camille; Delnatte, Capucine; Garrec, Céline; Renault, Victor; Golmard, Lisa; Fourme, Emmanuelle; Masliah-Planchon, Julien; Caputo, Sandrine M

High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer

早期发病的三阴性乳腺癌患者中,BRCA1 表观遗传突变的患病率很高

Schwartz, Mathias; Ibadioune, Sabrina; Delhomelle, Hélène; Barraud, Solenn; Caputo, Sandrine M; Trabelsi-Grati, Olfa; Villy, Marie-Charlotte; Laugé, Anthony; Tang, Roseline; Rouleau, Etienne; Mouret-Fourme, Emmanuelle; Stoppa-Lyonnet, Dominique; Pasmant, Éric; Golmard, Lisa; Colas, Chrystelle; Bièche, Ivan

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

ClinGen ENIGMA BRCA1 和 BRCA2 变异注释专家组针对基因特异性 ACMG/AMP 变异分类提出的循证建议

Parsons, Michael T; de la Hoya, Miguel; Richardson, Marcy E; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M; Chan, Raymond C; Cline, Melissa S; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; Leong, Huei San; Martins, Alexandra; Mensenkamp, Arjen R; Monteiro, Alvaro N; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A; Toland, Amanda E; Turnbull, Clare; Vogel, Maartje J; Weyandt, Jamie; Wiggins, George A R; Zec, Lauren; Couch, Fergus J; Walker, Logan C; Vreeswijk, Maaike P G; Goldgar, David E; Spurdle, Amanda B

Multi-institutional experience treating patients with cardiac devices on a 1.5 Tesla magnetic resonance-linear accelerator and workflow development for thoracic treatments

多中心合作机构使用1.5特斯拉磁共振直线加速器治疗植入心脏装置的患者,并开发胸部治疗工作流程

Keesman, Rick; van der Bijl, Erik; Kerkmeijer, Linda G W; Tyagi, Neelam; Akdag, Osman; Wolthaus, Jochem W H; van de Pol, Sandrine M G; Noteboom, Juus L; Intven, Martijn P W; Fast, Martin F; van Lier, Astrid L H M W

Differences in multidimensional phenotype of 2 joint pain models link early weight-bearing deficit to late depressive-like behavior in male mice

两种关节疼痛模型的多维表型差异表明,雄性小鼠早期负重不足与后期抑郁样行为相关。

Hestehave, Sara; Florea, Roxana; Fedorec, Alexander J H; Jevic, Maria; Mercy, Lucile; Wright, Annia; Morgan, Oakley B; Brown, Laurence A; Peirson, Stuart N; Géranton, Sandrine M