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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A基因的无义突变会增加早发性精神分裂症和其他精神障碍的风险,并有可能实现精准治疗。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正:GRIN2A 基因缺失变异会增加早发性精神分裂症和其他精神障碍的风险,并可能使精准治疗成为可能。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

睾丸癌联盟(TECAC):填补睾丸生殖细胞肿瘤遗传病因学方面的知识空白

Kanetsky, Peter A; Almstrup, Kristian; Cherlin, Svetlana; Cortessis, Victoria K; Ferlin, Alberto; Gietema, Jourik A; González-Neira, Anna; Grotmol, Tom; Hamilton, Robert J; Haugen, Trine B; Kiemeney, Lambertus A; Kim, Jung; Krausz, Csilla; Lessel, Davor; Lothe, Ragnhild A; Nead, Kevin T; Nsengimana, Jérémie; Poynter, Jenny N; Rajpert-DeMeyts, Ewa; Richiardi, Lorenzo; Schwartz, Stephen M; Skotheim, Rolf I; Stewart, Douglas R; Turnbull, Clare; Wiklund, Fredrik; Zheng, Tongzhang; Nathanson, Katherine L; McGlynn, Katherine A

Investigating discrepancies in accuracy, agreement and interpretability for single-frame embryo classification tasks conducted by embryologists and deep learning models

调查胚胎学家和深度学习模型在单帧胚胎分类任务中的准确性、一致性和可解释性方面的差异

Kakulavarapu, Radhika; Delbarre, Erwan; Sharma, Akriti; Jahanlu, David; Riegler, Michael A; Haugen, Trine B; Iliceto, Mario; Stensen, Mette H

In Vivo Studies of [(161)Tb]Tb-Trastuzumab Radiopharmaceutical Therapy in Human Epidermal Growth Factor Receptor 2-Expressing Breast Tumors Show High Tumor Uptake and Tumor Growth Suppression

在表达人表皮生长因子受体2的乳腺肿瘤中,[(161)Tb]Tb-曲妥珠单抗放射性药物治疗的体内研究显示,肿瘤摄取率高,且能抑制肿瘤生长。

Cold, Sigrid; Sadasivam, Pragalath; Wessel, Mette M; Ischyropoulou, Myrto; Fonslet, Jesper; Engel, Trine B; Nielsen, Carsten H; Kjaer, Andreas; Kristensen, Lotte K

Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study.

通过全转录组关联研究鉴定与睾丸生殖细胞肿瘤易感性相关的基因

Ugalde-Morales Emilio, Wilf Rona, Pluta John, Ploner Alexander, Fan Mengyao, Damra Mohammad, Aben Katja K, Anson-Cartwright Lynn, Chen Chu, Cortessis Victoria K, Daneshmand Siamak, Ferlin Alberto, Gamulin Marija, Gietema Jourik A, Gonzalez-Niera Anna, Grotmol Tom, Hamilton Robert J, Harland Mark, Haugen Trine B, Hauser Russ, Hildebrandt Michelle A T, Karlsson Robert, Kiemeney Lambertus A, Kim Jung, Lessel Davor, Lothe Ragnhild A, Loveday Chey, Chanock Stephen J, McGlynn Katherine A, Meijer Coby, Nead Kevin T, Nsengimana Jeremie, Popovic Maja, Rafnar Thorunn, Richiardi Lorenzo, Rocca Maria S, Schwartz Stephen M, Skotheim Rolf I, Stefansson Kari, Stewart Douglas R, Turnbull Clare, Vaughn David J, Winge Sofia B, Zheng Tongzhang, Monteiro Alvaro N, Almstrup Kristian, Kanetsky Peter A, Nathanson Katherine L, Wiklund Fredrik

Selenium and Coenzyme Q(10) Supplementation and Sex Differences in Cardiovascular Mortality Results from a Prospective Randomized Double-Blind Placebo-Controlled Trial in Elderly People Low in Selenium.

硒和辅酶 Q(10) 补充剂与心血管死亡率的性别差异:一项针对硒含量低的老年人的前瞻性随机双盲安慰剂对照试验的结果

Alehagen Urban, Aaseth Jan Olav, Schomburg Lutz, Opstad Trine B, Larsson Anders, Alexander Jan

Networks of pre-diagnostic circulating RNA in testicular germ cell tumour

睾丸生殖细胞肿瘤诊断前循环RNA网络

Burton, Joshua; Rounge, Trine B; Haugen, Trine B; Wojewodzic, Marcin W

Changes in methylation associated with development of metabolic syndrome in testicular cancer patients treated with cisplatin chemotherapy

顺铂化疗治疗睾丸癌患者代谢综合征发生与甲基化改变相关

Wojewodzic, Marcin W; Volders, Ellen L D; Meijer, Coby; Grotmol, Tom; Touw, Daan J; Lubberts, Sjoukje; Haugen, Trine B; Gietema, Jourik A; Rounge, Trine B