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

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases

外显子组测序可对 10% 的早发性或家族性系统性红斑狼疮病例进行分子诊断。

Tusseau, Maud; Khaldi-Plassart, Samira; Labalme, Audrey; Mathieu, Anne-Laure; Riller, Quentin; Molitor, Corentin; Simonet, Thomas; Viel, Sebastien; Gaboriaud, Christine; Thielens, Nicole; Heiser, Lionel; Chopin, Emilie; Rouvet, Isabelle; Fabien, Nicole; Goncalves, David; Fremeaux-Bacchi, Véronique; El-Sissy, Carine; Pottier, Nicolas; Larrue, Romain; Ranchin, Bruno; Laurent, Audrey; Fouillet-Desjonqueres, Marine; Jouret, Maurine; Mekinian, Arsène; Yamashita, Motoi; Morio, Tomohiro; Hachulla, Eric; Melki, Isabelle; Kone-Paut, Isabelle; Ballot, Claire; Reumaux, Heloise; Pillet, Pascal; Harambat, Jerome; Richez, Christophe; Richer, Olivier; Hatchuel, Yves; Louillet, Ferielle; Lega, Jean-Christophe; Durieu, Isabelle; Welfringer-Morin, Anne; Picard, Capucine; Messadi, Wassila; Sarrot-Reynauld, Françoise; Sanlaville, Damien; Bader-Meunier, Brigitte; Walzer, Thierry; Lesca, Gaëtan; Rieux-Laucat, Frédéric; Belot, Alexandre

Routine Monitoring of CAR-T-Cells Expansion and Persistence in Patients With Aggressive Large B-Cell Lymphoma by Flow Cytometry: A Single-Center Experience

利用流式细胞术常规监测侵袭性大B细胞淋巴瘤患者CAR-T细胞的扩增和持久性:单中心经验

Zduniak, Alexandra; Martinet, Jérémie; Lévêque, Emilie; Becker, Stéphanie; Tonnelet, David; Santos, Elodie Dos; Leroy, Claire; Alani, Mustafa; Rouvet, Jean; Brousseau, Marine; Giverne, Camille; Cuffel, Alexis; Jacquot, Serge; Roucheux, Arnaud; Veuiller, Alice; Lecornu, Nicolas; Norbert, Misa Eugene; Boyer, Olivier; Tilly, Hervé; Jardin, Fabrice; Latouche, Jean-Baptiste; Camus, Vincent

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

种系 C1GALT1C1 突变导致多系统伴侣病

Florian Erger, Rajindra P Aryal, Björn Reusch, Yasuyuki Matsumoto, Robert Meyer, Junwei Zeng, Cordula Knopp, Maxence Noel, Lukas Muerner, Andrea Wenzel, Stefan Kohl, Nikolai Tschernoster, Gunter Rappl, Isabelle Rouvet, Jutta Schröder-Braunstein, Felix S Seibert, Holger Thiele, Martin G Häusler, Lutz

Polyclonal expansion of TCR Vbeta 21.3(+) CD4(+) and CD8(+) T cells is a hallmark of Multisystem Inflammatory Syndrome in Children

儿童多系统炎症综合征的标志是TCR Vβ21.3(+)CD4(+)和CD8(+)T细胞的多克隆扩增。

Moreews, Marion; Le Gouge, Kenz; Khaldi-Plassart, Samira; Pescarmona, Rémi; Mathieu, Anne-Laure; Malcus, Christophe; Djebali, Sophia; Bellomo, Alicia; Dauwalder, Olivier; Perret, Magali; Villard, Marine; Chopin, Emilie; Rouvet, Isabelle; Vandenesh, Francois; Dupieux, Céline; Pouyau, Robin; Teyssedre, Sonia; Guerder, Margaux; Louazon, Tiphaine; Moulin-Zinsch, Anne; Duperril, Marie; Patural, Hugues; Giovannini-Chami, Lisa; Portefaix, Aurélie; Kassai, Behrouz; Venet, Fabienne; Monneret, Guillaume; Lombard, Christine; Flodrops, Hugues; De Guillebon, Jean-Marie; Bajolle, Fanny; Launay, Valérie; Bastard, Paul; Zhang, Shen-Ying; Dubois, Valérie; Thaunat, Olivier; Richard, Jean-Christophe; Mezidi, Mehdi; Allatif, Omran; Saker, Kahina; Dreux, Marlène; Abel, Laurent; Casanova, Jean-Laurent; Marvel, Jacqueline; Trouillet-Assant, Sophie; Klatzmann, David; Walzer, Thierry; Mariotti-Ferrandiz, Encarnita; Javouhey, Etienne; Belot, Alexandre

Fanconi anemia A protein participates in nucleolar homeostasis maintenance and ribosome biogenesis

范可尼贫血症一种蛋白参与核仁稳态维持和核糖体生物合成

Anna Gueiderikh, Frédérique Maczkowiak-Chartois, Guillaume Rouvet, Sylvie Souquère-Besse, Sébastien Apcher, Jean-Jacques Diaz, Filippo Rosselli

DNA-PK deficiency potentiates cGAS-mediated antiviral innate immunity

DNA-PK缺陷增强cGAS介导的抗病毒先天免疫

Xiaona Sun,Ting Liu,Jun Zhao,Hansong Xia,Jun Xie,Yu Guo,Li Zhong,Mi Li,Qing Yang,Cheng Peng,Isabelle Rouvet,Alexandre Belot,Hong-Bing Shu,Pinghui Feng,Junjie Zhang

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

DNA 修复因子 Hebo 的无义突变导致轻度骨髓衰竭和小头畸形

Shu Zhang, Corinne Pondarre, Gaelle Pennarun, Helene Labussiere-Wallet, Gabriella Vera, Benoit France, Marie Chansel, Isabelle Rouvet, Patrick Revy, Bernard Lopez, Jean Soulier, Pascale Bertrand, Isabelle Callebaut, Jean-Pierre de Villartay0

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

新型 NEK8 突变通过 YAP 失调导致严重综合征性肾囊性发育不良

Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, S

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity

PRKDC基因突变与免疫缺陷、肉芽肿和AIR依赖性自身免疫相关

Good, Michael F; Batzloff, Michael R; Pandey, Manisha; Belot, Alexandre; Mathieu, Anne-Laure; Veronese, Estelle; Rice, Gillian; Fouyssac, Fanny; Bertrand, Yves; Picard, Capucine; Walter, Jolan; Notarangelo, Luigi; Schuetz, Catharina; Reumaux, Heloise; Van Der Burg, Mirjam; Kemp, Helen; Rouvet, Isabelle; Malcus, Christophe; Fabien, Nicole; Crow, Yanick; Menetrier-Caux, Christine; De Villartay, Jean-Pierre; Walzer, Thierry

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity

PRKDC基因突变与免疫缺陷、肉芽肿和AIR依赖性自身免疫相关

Trumper, Max; Belot, Alexandre; Mathieu, Anne-Laure; Veronese, Estelle; Rice, Gillian; Fouyssac, Fanny; Bertrand, Yves; Picard, Capucine; Walter, Jolan; Notarangelo, Luigi; Schuetz, Catharina; Reumaux, Heloise; Van Der Burg, Mirjam; Kemp, Helen; Rouvet, Isabelle; Malcus, Christophe; Fabien, Nicole; Crow, Yanick; Menetrier-Caux, Christine; De Villartay, Jean-Pierre; Walzer, Thierry