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

Unlocking the power of non-coding RNAs: toward real-time cancer monitoring in precision oncology

释放非编码RNA的潜能:迈向精准肿瘤学中的实时癌症监测

Chang, Manon; Papazyan, Thomas; Pons-Tostivint, Elvire; Fradin, Delphine

Perinatal consumption of a thermally processed diet alters feeding behavior and has sex-dependent effects upon metabolism in later life in mice

小鼠围产期摄入热加工食品会改变其摄食行为,并对成年后的代谢产生性别依赖性影响。

Lima, M T Nogueira Silva; Delayre-Orthez, C; Howsam, M; Jacolot, P; Niquet-Léridon, C; Okwieka, A; Anton, P M; Perot, M; Ghinet, A; Jouquand, C; Fradin, C; Boulanger, E; Jaisson, S; Gillery, P; Tessier, F J

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

对患有过度自噬的 X 连锁肌病 (XMEA) 的患者进行临床、形态学和分子特征分析。

Merlet Angèle N, Lacène Emmanuelle, Nelson Isabelle, Brochier Guy, Labasse Clémence, Chanut Anais, Madelaine Angeline, Beuvin Maud, Bonne Gisèle, Féasson Léonard, Minot Marie-Christine, Noury Jean-Baptiste, Fradin Mélanie, Savarese Marco, Fernández-Eulate Gorka, Behin Anthony, Stojkovic Tanya, Hentschel Andreas, Marcorelles Pascale, Roos Andreas, Evangelista Teresinha

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial

基因治疗后,莱伯西林相关性视网膜纤毛病患者视锥细胞介导的视觉功能恢复:一项 I/II 期试验的一年结果

Aleman, Tomas S; Uyhazi, Katherine E; Roman, Alejandro J; Weber, Mariejel L; O'Neil, Erin C; Swider, Malgorzata; Sumaroka, Alexander; Maguire, Katherine H; Aleman, Elena M; Santos, Arlene J; Kim, Rebecca J; Parchinski, Kelsey M; Billek, Andrew; Fradin, Makayla; Chung, William; Margaritis, Paris; Sun, Junwei; Scoles, Drew H; Wu, Vivian; Garafalo, Alexandra V; Jayagopal, Ashwath; Yerxa, Ben; Tuller, Sarah; Maguire, Albert M; Bennett, Jean; Cideciyan, Artur V

Cellular Distribution and Motion of Essential Magnetosome Proteins Expressed in Mammalian Cells

哺乳动物细胞中表达的必需磁小体蛋白的细胞分布和运动

Sun, Qin; Fradin, Cécile; Ahmed, Moeiz; Thompson, R Terry; Prato, Frank S; Goldhawk, Donna E

Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome

探索RBFOX2单倍体功能不全:与左心发育不全综合征的新遗传联系

Sauvestre, Clément; Bouchatal, Amel; Beneteau, Claire; Michaud, Vincent; Blanc, Pierre; Bouvagnet, Patrice; Chung, Wendy K; Marcadier, Julien; Thomas, Mary Ann; Karstensen, Helena Gásdal; Born, Alfred Peter; Breen, Catherine; Xiong, Shiyi; Ades, Lesley C; Dixit, Abhijit; Fradin, Mélanie; Rooryck, Caroline

Soluble PD-L1 (sPD-L1) as a biomarker of durable response and survival in patients with advanced non-small cell lung cancer (NSCLC) treated with first-line immune checkpoint inhibitors (ICIs).

可溶性 PD-L1 (sPD-L1) 可作为一线免疫检查点抑制剂 (ICI) 治疗的晚期非小细胞肺癌 (NSCLC) 患者持久疗效和生存期的生物标志物

Costantini Adrien, Takam Kamga Paul, Pons-Tostivint Elvire, Fradin Delphine, Emile Jean-François, Giroux-Leprieur Etienne

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

SMCHD1基因变异与2型面肩肱型肌营养不良症及其致病性和疾病外显率预测的挑战

Gérard, Laurène; Delourme, Mégane; Tardy, Charlotte; Ganne, Benjamin; Perrin, Pierre; Chaix, Charlene; Trani, Jean Philippe; Eudes, Nathalie; Laberthonnière, Camille; Bertaux, Karine; Missirian, Chantal; Bassez, Guillaume; Behin, Anthony; Cintas, Pascal; Cluse, Florent; De La Cruz, Elisa; Delmont, Emilien; Evangelista, Teresinha; Fradin, Mélanie; Hadouiri, Nawale; Kouton, Ludivine; Laforêt, Pascal; Lefeuvre, Claire; Magot, Armelle; Manel, Véronique; Nectoux, Juliette; Pegat, Antoine; Sole, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Svahn, Juliette; Tard, Celine; Thauvin, Christel; Verebi, Camille; Salort Campana, Emmanuelle; Attarian, Shahram; Nguyen, Karine; Badache, Ali; Bernard, Rafaëlle; Magdinier, Frédérique

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

ARID2相关疾病:进一步阐明27例新患者的临床表型并描述其表观遗传特征

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A; McConkey, Haley; Mendelsohn, Bryce A; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle