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

Prioritising research on endocrine disruption in the marine environment: a global perspective

优先开展海洋环境内分泌干扰研究:全球视角

Pinto, Patricia I S; Miglioli, Angelica; LaLone, Carlie A; Baumann, Lisa; Baynes, Alice; Blanc-Legendre, Mélanie; Cancio, Ibon; Cousin, Xavier; Dang, ZhiChao; Dumollard, Rémi; Ford, Alex T; Green, Christopher; Iguchi, Taisen; Kearney, Philippa; Knigge, Thomas; Minier, Christophe; Monsinjon, Tiphaine; Monteiro, Marta S; Sturve, Joachim; Watanabe, Haruna; Yamamoto, Hiroshi; Ankley, Gerald; Power, Deborah M; Katsiadaki, Ioanna

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

Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients

早期间质性肺疾病的分子检测:来自 699 例无关患者的结果

Louvrier, Camille; Nathan, Nadia; Cottin, Vincent; Desroziers, Tifenn; Nau, Valérie; Soreze, Yohan; Dastot-Le Moal, Florence; Reix, Philippe; Bouvry, Diane; Thumerelle, Caroline; Reynaud-Gaubert, Martine; Hadchouel, Alice; Prévot, Grégoire; Manali, Effrosyni; Kannengiesser, Caroline; Ba, Ibrahima; Amselem, Serge; Houdouin, Véronique; Borie, Raphaël; Legendre, Marie

Clinicopathological Spectrum and Treatment Outcomes of Cryofibrinogen-Associated Nephropathies

冷纤维蛋白原相关性肾病的临床病理谱和治疗结果

Dang, Julien; Faguer, Stanislas; Jourde-Chiche, Noémie; Javaugue, Vincent; Bridoux, Frank; Puissant, Bénédice; Heim, Xavier; Boffa, Jean-Jacques; François, Hélène; Tamzali, Yanis; Pillebout, Evangéline; Daugas, Eric; Monteiro, Renato; Daniel, Laurent; Chevalier, Kévin; Audard, Vincent; Van Wynsberghe, Margaux; Guerrot, Dominique; Legendre, Mathieu; Sanges, Sébastien; Lebas, Céline; Florens, Nans; Ronsin, Charles; Mussini, Charlotte; Ferlicot, Sophie; Mouawad, Sarah; Snanoudj, Renaud; Pimentel, Ana; Essig, Marie; De Chambrun, Marc Pineton; Ghillani-Dalbin, Pascale; Terrier, Benjamin; Zaidan, Mohamad

Genetic screening in kidney transplant candidates

肾移植候选者的基因筛查

Le Moal, Philippe; Knebelmann, Bertrand; Hummel, Aurélie; Gribouval, Olivier; Anglicheau, Dany; Legendre, Christophe; Morinière, Vincent; Heidet, Laurence; Dorval, Guillaume; Antignac, Corinne; Servais, Aude

Multigenerational effects of uranium exposure reveal stronger testicular dysregulation in the second generation

铀暴露的多代效应表明,第二代睾丸功能紊乱更为严重。

Legendre, Audrey; Gloaguen, Céline; Kereselidze, Dimitri; Saci, Nawel; Murat El Houdigui, Sophia; Froment, Pascal; Elie, Christelle; Defoort, Catherine; Lestaevel, Philippe; Benadjaoud, Mohamed Amine; Souidi, Maâmar; Grison, Stéphane

Cryptocercus Genomes Expand Knowledge of Adaptations to Xylophagy and Termite Sociality.

隐尾蚁基因组扩展了对木食性和白蚁社会性的适应性认识。

Jones Alun R C, Mikhailova Alina A, Aumont Cédric, Berger Juliette, Liu Cong, He Shulin, Wang Zongqing, Winkler Sylke, Bornberg-Bauer Erich, Legendre Frédéric, McMahon Dino P, Harrison Mark C

Early Stent Removal at Bedside Decreases Urinary Tract Infection in Kidney Transplant Recipients: A Monocentric Prospective Study

床旁早期支架取出可降低肾移植受者尿路感染率:一项单中心前瞻性研究

Audenet, François; Panis, Adrien; Fraisse, Guillaume; Dariane, Charles; Hurel, Sophie; Amrouche, Lucile; Anglicheau, Dany; Legendre, Christophe; Mejean, Arnaud; Timsit, Marc-Olivier

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series

PRKAR1B相关Marbach-Schaaf神经发育综合征的表型和基因型谱的扩展:病例系列研究

Burkart, Sebastian; Guzeloglu, Tarik; Soares, Ana R; Valenzuela, Irene; Tizzano, Eduardo F; Gómez-Andres, David; Pasquier, Laurent; Legendre, Marine; Berges, Camille; Thevenon, Julien; Gauthier, Marjolaine; Heid, Caleb; Ranum, Elly; Shen, Joseph; Frees, Michelle; Schmidtke, Michael W; Pilar, Caro; Schaaf, Christian P