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

Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect

出版商更正:体细胞遗传拯救种系核糖体组装缺陷

Tan, Shengjiang; Kermasson, Laëtitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bôle-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cécile; Nitschké, Patrick; Parisot, Mélanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frédéric; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J; Bellanné-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, François; Donadieu, Jean; Warren, Alan J; Revy, Patrick

Somatic genetic rescue of a germline ribosome assembly defect

种系核糖体组装缺陷的体细胞遗传拯救

Shengjiang Tan #, Laëtitia Kermasson #, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

更正:下一代测序在极早期发病炎症性肠病诊断中的应用:一项多中心研究

Charbit-Henrion, Fabienne; Parlato, Marianna; Hanein, Sylvain; Duclaux-Loras, Rémi; Nowak, Jan; Begue, Bernadette; Rakotobe, Sabine; Bruneau, Julie; Fourrage, Cécile; Alibeu, Olivier; Rieux-Laucat, Frédéric; Lévy, Eva; Stolzenberg, Marie-Claude; Mazerolles, Fabienne; Latour, Sylvain; Lenoir, Christelle; Fischer, Alain; Picard, Capucine; Aloi, Marina; Dias, Jorge Amil; Hariz, Mongi Ben; Bourrier, Anne; Breuer, Christian; Breton, Anne; Bronsky, Jiri; Buderus, Stephan; Cananzi, Mara; Coopman, Stéphanie; Crémilleux, Clara; Dabadie, Alain; Dumant-Forest, Clémentine; Gurkan, Odul Egritas; Fabre, Alexandre; Fischer, Aude; Diaz, Marta German; Gonzalez-Lama, Yago; Goulet, Olivier; Guariso, Graziella; Gurcan, Neslihan; Homan, Matjaz; Hugot, Jean-Pierre; Jeziorski, Eric; Karanika, Evi; Lachaux, Alain; Lewindon, Peter; Lima, Rosa; Magro, Fernando; Major, Janos; Malamut, Georgia; Mas, Emmanuel; Mattyus, Istvan; Mearin, Luisa M; Melek, Jan; Navas-Lopez, Victor Manuel; Paerregaard, Anders; Pelatan, Cecile; Pigneur, Bénédicte; Pais, Isabel Pinto; Rebeuh, Julie; Romano, Claudio; Siala, Nadia; Strisciuglio, Caterina; Tempia-Caliera, Michela; Tounian, Patrick; Turner, Dan; Urbonas, Vaidotas; Willot, Stéphanie; Ruemmele, Frank M; Cerf-Bensussan, Nadine

Loss of ARHGEF1 causes a human primary antibody deficiency

ARHGEF1基因缺失会导致人类原发性抗体缺乏症。

Amine Bouafia ,Sébastien Lofek ,Julie Bruneau ,Loïc Chentout ,Hicham Lamrini ,Amélie Trinquand ,Marie-Céline Deau ,Lucie Heurtier ,Véronique Meignin ,Capucine Picard ,Elizabeth Macintyre ,Olivier Alibeu ,Marc Bras ,Thierry Jo Molina ,Marina Cavazzana ,Isabelle André-Schmutz ,Anne Durandy ,Alain Fischer ,Eric Oksenhendler ,Sven Kracker

Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements

优化 CRISPR/Cas9 递送至人类造血干细胞和祖细胞以进行治疗性基因组重排

Annalisa Lattanzi, Vasco Meneghini, Giulia Pavani, Fatima Amor, Sophie Ramadier, Tristan Felix, Chiara Antoniani, Cecile Masson, Olivier Alibeu, Ciaran Lee, Matthew H Porteus, Gang Bao, Mario Amendola, Fulvio Mavilio, Annarita Miccio

Early Acute Microvascular Kidney Transplant Rejection in the Absence of Anti-HLA Antibodies Is Associated with Preformed IgG Antibodies against Diverse Glomerular Endothelial Cell Antigens

早期急性微血管肾移植排斥反应,即使不存在抗HLA抗体,也与针对多种肾小球内皮细胞抗原的预存IgG抗体有关。

Delville, Marianne; Lamarthée, Baptiste; Pagie, Sylvain; See, Sarah B; Rabant, Marion; Burger, Carole; Gatault, Philippe; Giral, Magali; Thaunat, Olivier; Arzouk, Nadia; Hertig, Alexandre; Hazzan, Marc; Matignon, Marie; Mariat, Christophe; Caillard, Sophie; Kamar, Nassim; Sayegh, Johnny; Westeel, Pierre-François; Garrouste, Cyril; Ladrière, Marc; Vuiblet, Vincent; Rivalan, Joseph; Merville, Pierre; Bertrand, Dominique; Le Moine, Alain; Duong Van Huyen, Jean-Paul; Cesbron, Anne; Cagnard, Nicolas; Alibeu, Olivier; Satchell, Simon C; Legendre, Christophe; Zorn, Emmanuel; Taupin, Jean-Luc; Charreau, Béatrice; Anglicheau, Dany

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

下一代测序对极早发性炎症性肠病的诊断效果:一项多中心研究

Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, Julie Bruneau, Cécile Fourrage, Olivier Alibeu, Frédéric Rieux-Laucat, Eva Lévy, Marie-Claude Stolzenberg, Fabienne Mazerolles, Sylvain Latour, Christelle Lenoir, Alain Fisch

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders

miR-146a在神经干细胞分化和神经谱系决定中的作用:与神经发育障碍的相关性

Lam Son Nguyen ,Julien Fregeac ,Christine Bole-Feysot ,Nicolas Cagnard ,Anand Iyer ,Jasper Anink ,Eleonora Aronica ,Olivier Alibeu ,Patrick Nitschke ,Laurence Colleaux

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

在弗林斯综合征患者中发现隐性功能丧失的PIGN等位基因,包括留尼汪岛创始人效应的基因内缺失。

Alessandri, Jean-Luc; Gordon, Christopher T; Jacquemont, Marie-Line; Gruchy, Nicolas; Ajeawung, Norbert F; Benoist, Guillaume; Oufadem, Myriam; Chebil, Asma; Duffourd, Yannis; Dumont, Coralie; Gérard, Marion; Kuentz, Paul; Jouan, Thibaud; Filippini, Francesca; Nguyen, Thi Tuyet Mai; Alibeu, Olivier; Bole-Feysot, Christine; Nitschké, Patrick; Omarjee, Asma; Ramful, Duksha; Randrianaivo, Hanitra; Doray, Bérénice; Faivre, Laurence; Amiel, Jeanne; Campeau, Philippe M; Thevenon, Julien

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

靶向外显子组测序发现PBX1与肾脏和泌尿道单基因先天性异常有关

Heidet, Laurence; Morinière, Vincent; Henry, Charline; De Tomasi, Lara; Reilly, Madeline Louise; Humbert, Camille; Alibeu, Olivier; Fourrage, Cécile; Bole-Feysot, Christine; Nitschké, Patrick; Tores, Frédéric; Bras, Marc; Jeanpierre, Marc; Pietrement, Christine; Gaillard, Dominique; Gonzales, Marie; Novo, Robert; Schaefer, Elise; Roume, Joëlle; Martinovic, Jelena; Malan, Valérie; Salomon, Rémi; Saunier, Sophie; Antignac, Corinne; Jeanpierre, Cécile