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

Association between shortened maternal and fetal telomere length and abnormal fetal development.

母体和胎儿端粒长度缩短与胎儿发育异常之间的关联

Coudrieu Océane, Ouedraogo Zangbéwendé Guy, Gallot Denis, Delabaere Amélie, Veronese Lauren, Eymard-Pierre Eleonore, Tchirkov Andrei, Goumy Carole

Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination

利用自然流产或治疗性妊娠终止后胎盘和脐带样本进行光学基因组图谱绘制的可行性

Goumy, Carole; Ouedraogo, Zangbéwendé Guy; Bellemonte, Elodie; Eymard-Pierre, Eleonore; Soler, Gwendoline; Perthus, Isabelle; Pebrel-Richard, Céline; Gouas, Laetitia; Salaun, Gaëlle; Véronèse, Lauren; Laurichesse, Hélène; Darcha, Claude; Tchirkov, Andrei

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

POLR3K基因突变会导致髓鞘形成不足性脑白质营养不良和核糖体RNA调控异常。

Dorboz, Imen; Dumay-Odelot, Hélene; Boussaid, Karima; Bouyacoub, Yosra; Barreau, Pauline; Samaan, Simon; Jmel, Haifa; Eymard-Pierre, Eleonore; Cances, Claude; Bar, Céline; Poulat, Anne-Lise; Rousselle, Christophe; Renaldo, Florence; Elmaleh-Bergès, Monique; Teichmann, Martin; Boespflug-Tanguy, Odile

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer

TERT启动子状态和基因拷贝数增加:对TERT表达的影响及其与乳腺癌预后的关系

Gay-Bellile, Mathilde; Véronèse, Lauren; Combes, Patricia; Eymard-Pierre, Eleonore; Kwiatkowski, Fabrice; Dauplat, Marie-Mélanie; Cayre, Anne; Privat, Maud; Abrial, Catherine; Bignon, Yves-Jean; Mouret-Reynier, Marie-Ange; Vago, Philippe; Penault-Llorca, Frédérique; Tchirkov, Andrei

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases

脑脊液中N-乙酰天冬氨酰谷氨酸水平升高提示白质疾病患者存在特定的分子诊断异常。

Mochel, Fanny; Boildieu, Nadège; Barritault, Julie; Sarret, Catherine; Eymard-Pierre, Eleonore; Seguin, François; Schiffmann, Raphael; Boespflug-Tanguy, Odile

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

外周内体膜成分ALS2的不稳定突变体会导致早发性运动神经元疾病。

Yamanaka, Koji; Vande Velde, Christine; Eymard-Pierre, Eleonore; Bertini, Enrico; Boespflug-Tanguy, Odile; Cleveland, Don W