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

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy

ACO2相关显性视神经萎缩的临床和遗传谱

Beaulieu, Cléis; Bouzidi, Aymane; Desquiret-Dumas, Valérie; Dieu, Xavier; Makam, Rahul; Jurkute, Neringa; Vignal, Catherine; Philibert, Manon; Odent, Sylvie; Zanlonghi, Xavier; Latypov, Marie; Debourdeau, Eloi; Bocquet, Béatrice; Yahia, Raihane; Pons, Linda; Villard, Frédéric Pollet; Jeanjean, Luc; Verrecchia, Sarah; Froment, Caroline; Engel, Camille; Poirsier, Céline; Arndt, Carl; Dollfus, Hélène; Gohier, Philippe; Charif, Majida; Ferré, Marc; Prunier-Mirebeau, Delphine; Meunier, Isabelle; Yu-Wai-Man, Patrick; Amati-Bonneau, Patrizia; Lenaers, Guy; Smirnov, Vasily

Integrating killer cell immunoglobulin-like receptor highresolution genotyping for predicting transplant outcomes in allogeneic hematopoietic stem cell transplantation

整合杀伤细胞免疫球蛋白样受体高分辨率基因分型预测同种异体造血干细胞移植的移植结果

Schäfer, Antonia; Buhler, Stéphane; Farias, Ticiana D J; Kichula, Katherine M; Baldomero, Helen; Sollet, Zuleika Calderin; Ferrari-Lacraz, Sylvie; Micheli, Baptiste; Masouridi-Levrat, Stavroula; Mesquita, Vanessa; Kürsteiner, Oliver; Nair, Gayathri; Halter, Jörg; Güngör, Tayfun; Schneidawind, Dominik; Chalandon, Yves; Passweg, Jakob R; Norman, Paul J; Villard, Jean

Proteome-scale autoantibody profiling in PSC: Associations with clinical phenotypes and evidence for neuroendocrine deregulations

原发性硬化性胆管炎(PSC)中蛋白质组规模的自身抗体分析:与临床表型的关联以及神经内分泌失调的证据

Cornillet, Martin; Båve, Aiva Lundberg; Sun, Dan; Nouairia, Ghada; Villard, Christina; Grigoriadis, Aristeidis; von Seth, Erik; Jansson, Hannes; Álvez, María Bueno; Bergström, Sofia; Nilsson, Peter; Uhlén, Mathias; Edfors, Fredrik; Stål, Per; Sparrelid, Ernesto; Björkström, Niklas K; Halfvarson, Jonas; Bergquist, Annika

Regulation of HDL dysfunctionality by phosphatidylethanolamine links poly-unsaturated fatty acids with atherosclerotic cardiovascular diseases

磷脂酰乙醇胺对高密度脂蛋白功能障碍的调节作用将多不饱和脂肪酸与动脉粥样硬化性心血管疾病联系起来

Taradeh, Malik; Hardy, Lise M; Dahik, Veronica D; Lhomme, Marie; Wang, Hua; Reydellet, Canelle; Materne, Clément; Kc, Pukar; Bun, Eric; Clemessy, Maud; Pais-De-Barros, Jean-Paul; Galier, Sophie; Frisdal, Eric; Durand, Hervé; Ponnaiah, Maharajah; El Khoury, Petra; Villard, Elise F; Lesnik, Philippe; Gallo, Antonio; Kappeler, Laurent; Giral, Philippe; Bruckert, Eric; Masson, David; Guerin, Maryse; Kontush, Anatol; Guillas, Isabelle; Le Goff, Wilfried

Sex-Associated Aspects of Referral, Resectability, and Survival in Patients with Colorectal Liver Metastases (CRLM): A Population-Based Single-Center Study of 1207 MDT-Referred Patients

结直肠癌肝转移(CRLM)患者的转诊、可切除性和生存率的性别相关因素:一项基于人群的单中心研究,纳入1207例经MDT转诊的患者

Nebbia, Martina; Villard, Christina; Gilg, Stefan; Sparrelid, Ernesto; Gerling, Marco; Engstrand, Jennie

Hypoalbuminemia as a prognostic marker for survival in biliary tract cancer: associations with tumor type, treatment and sex

低白蛋白血症作为胆道癌生存预后标志物:与肿瘤类型、治疗和性别的关联

Abdulrazzak, Mostafa; Björkhem-Bergman, Linda; Villard, Christina; Gerling, Marco; Gustavell, Tina; Jansson, Hannes

Frequency responses of human magnetophosphene perception thresholds during dark adaptation point to rod modulation

暗适应期间人类磁光幻觉感知阈值的频率响应指向视杆细胞的调制

Bouisset, Nicolas; Carvallo, Andres; Villard, Sebastien; Laakso, Ilkka; Legros, Alexandre

Recovery from symptoms using an extensively hydrolyzed formula with synbiotic in infants with presumed cow's milk allergy

使用深度水解配方奶粉和合生元治疗疑似牛奶蛋白过敏的婴儿,症状得以缓解

Lemoine, Anaïs; Villard-Truc, Florence; Ait Mohamed Amar, Imene; Payot, François

Postnatal Development of the Perirhinal and Parahippocampal Cortices: A Stereological Study in Macaque Monkeys

猕猴出生后嗅周皮层和海马旁皮层的发育:一项立体学研究

Villard, Justine; Chareyron, Loïc J; Banta Lavenex, Pamela; Amaral, David G; Lavenex, Pierre