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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Neoadjuvant immune checkpoint blockade before chemoradiation for cervical squamous carcinoma (GINECO window-of-opportunity COLIBRI study): a phase II trial

宫颈鳞状细胞癌新辅助放化疗前免疫检查点阻断治疗(GINECO 机会窗口 COLIBRI 研究):一项 II 期试验

Ray-Coquard, Isabelle; Kaminsky-Forrett, Marie-Christine; Ohkuma, Ryotaro; de Montfort, Aymeric; Joly, Florence; Treilleux, Isabelle; Ghamry-Barrin, Sarah; Bello-Roufai, Diana; Saintigny, Pierre; Angelergues, Antoine; Michon, Lucas; Hardy-Bessard, Anne-Claire; Attignon, Valéry; Auclair, Jessie; Chemin, Gabriel; Lainé, Alexandra; Péré, Hélène; Veyer, David; Savoye, Aude-Marie; Berthet, Justine; Caux, Christophe; Lecuru, Fabrice; Dubois, Bertrand; Bétrian, Sarah

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

CHD3相关Snijders-Blok-Campeau综合征表观遗传特征的鉴定揭示了CHARGE综合征表观遗传特征的异质性:朝着更好地表征染色质病变迈进

Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansović, Ivona; Barakat, Tahsin Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le Guillou, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stéphanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlène; Courtin, Thomas; Abdallah, Hamza Hadj; Ducreux, Stéphanie; Laloy, Jean-Sérène; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, François; Nicolas, Gaël; Coussement, Aurélie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valérie; Charbonnier, Camille; de Dieuleveult, Maud

Overlapping forms of granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis: Insights from a European multicenter study

肉芽肿性多血管炎和嗜酸性肉芽肿性多血管炎的重叠类型:一项欧洲多中心研究的启示

Pallotti, Federica; Mettler, Camille; Papo, Matthias; Iudici, Michele; Padoan, Roberto; Sorin, Boris; Regola, Francesca; Franceschini, Franco; Moiseev, Sergey; Novikov, Pavel; Piga, Mario Andrea; Moroncini, Gianluca; Brix, Silke R; Kafagi, Abdul Hadi; Deshayes, Samuel; Aouba, Achille; Campagne, Julien; Delvino, Paolo; Tervaert, Jan Willem Cohen; Brussino, Luisa; Michaud, Martin; Venhoff, Nils; Alberici, Federico; Iannone, Claudia; Rosenstingl, Sophie; Moutel, Marin; Galempoix, Jean-Marc; Cottin, Vincent; Jaccard, Clara; Riehl, Diane; Legendre, Paul; Billet, Anne Claire; Parronchi, Paola; Quartuccio, Luca; Teixeira, Vitor; Egan, Allyson; Jayne, David; Tombetti, Enrico; Caminati, Marco; Pagnoux, Christian; Regent, Alexis; Ruivard, Marc; Guillevin, Loïc; Puéchal, Xavier; Terrier, Benjamin

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

NRDC基因的双等位基因变异会导致一种神经发育障碍,其特征是新生儿死亡、小头畸形和脑部异常。

Pehlivan, Davut; Sandoval, Abigail; Maroofian, Reza; Lecoquierre, François; Al Shamsi, Aisha M; Lee, Gyu S; Yesilbas, Osman; Taylor, Preston; McDougal, Matthew B; Bahrambeigi, Vahid; Aryani, Omid; Ramirez, Juan Felipe; Salih, Khalid Hama; Al Alam, Chadi; Morsy, Heba; Hussien, Haytham; Omar, Tarek; Abdelrazek, Ibrahim M; Brehin, Anne Claire; Marafi, Dana; Kalayci, Tugba; Rahma, Jubran Abu; Talbeya, Jawabreh Kassem; Dabbah, Husein; Verspyck, Eric; Moosavian, Toktam; Fatih, Jawid M; Mitani, Tadahiro; Akay, Gulsen; Calame, Daniel G; Guerrot, Anne-Marie; Chung, Wendy K; Houlden, Henry; Lupski, James R; Shalata, Adel; Yoon, Wan Hee

In Vitro Modeling of Age-Associated Lipid Mediator's Impact on Vascular Biology Following Platelet Concentrate Transfusion

体外模型研究血小板浓缩液输注后年龄相关脂质介质对血管生物学的影响

Prier, Amelie; Portier, Mailys; Heranney, Chloe; Kouadio, Nancy; Arthaud, Charles-Antoine; Eyraud, Marie-Ange; Heestermans, Marco; Bertrand-Michel, Justine; Hamzeh-Cognasse, Hind; Cognasse, Fabrice; Duchez, Anne-Claire

Strengthening supply chains for pathogen genomic surveillance in Asia

加强亚洲病原体基因组监测的供应链

Stona, Anne-Claire; Khoo, Yoong Khean; Moe, La; Wulandari, Suci; Agoramurthy, Shreya; Getchell, Marya; Mak, Tze-Minn; Pang, Junxiong; Liu, Elyssa Jiawen; Selva Kumar, Shurendar; Lim, John Cw; Smith, Gavin J D; Bertholet, Alexandra; Garg, Arika; Harsono, Steven; Magner, Maeve; Qadri, Firdausi; Shirin, Tahmina; Andalucia, Lucia Rizka; Munira, Syarifah Liza; Xangsayarath, Phonepadith; Robinson, Matthew T; Setk, Swe; Myat Tu, Hlaing; Arunkumar, Govindakarnavar; Jha, Runa; Amir, Afreenish; Ikram, Aamer; Nisar, Imran; Dizon, Timothy; Saloma, Cynthia; Malavige, Neelika Gathsaurie; De Alwis, Ruklanthi; Pronyk, Paul M

Assessment of soluble PD-L1 in septic shock in relation to immunosuppressive phenotypes

脓毒性休克中可溶性PD-L1与免疫抑制表型的关系评估

Bonnet, Camille; Foray, Anne-Perrine; Micoud, Eléonore; Lafon, Thomas; Gossez, Morgane; Lukaszewicz, Anne-Claire; Venet, Fabienne; Monneret, Guillaume

Expert consensus-based clinical practice guidelines for Care and weaning procedures in tracheostomized ICU patients after invasive mechanical ventilation: a joint statement by the Intensive Care Physiotherapy Society (SKR) and the French Intensive Care Society (SRLF)

重症监护物理治疗学会 (SKR) 和法国重症监护学会 (SRLF) 联合发布的基于专家共识的 ICU 气管切开患者有创机械通气后护理和撤机程序临床实践指南

Medrinal, Clément; Delemazure, Julie; Billard, Manon; Carpentier, Dorothée; Choukroun, Gérald; Combret, Yann; De Crouy, Anne-Claire; López, Carlos Díaz; Dugernier, Jonathan; Farcy, Muriel; Foudhaili, Adela; Gallice, Thomas; Gatignol, Peggy; Ghelab, Zina; Houze, Marie-Hélène; Jezequel, Mélissa; Latiers, Anne-Claire; Marzouk, Mehdi; Morawiec, Elise; Piquilloud, Lise; Ruttimann, Aude; Sanchez, Perrine; Terzi, Nicolas; Thille, Arnaud W; Reffienna, Matthieu

Atomic-scale structure of gadolinium in nanocrystalline fluorapatite from marine sediments

海洋沉积物中纳米晶氟磷灰石中钆的原子尺度结构

Manceau, Alain; Giacomelli, Andrea; Li, Yan; Gaillot, Anne-Claire; Liao, Jianlin; Spadini, Lorenzo; Simionovici, Alexandre; Koschinsky, Andrea; Mathon, Olivier; Steinmann, Stephan N