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

Intensive Chemotherapy With or Without Midostaurin in Adults ≥ 60 Years Old With FLT3-Mutated AML: A FILO-DATAML-PETHEMA Real-World Study

一项针对≥60岁FLT3突变型急性髓系白血病(AML)成人患者的FILO-DATAML-PETHEMA真实世界研究:强化化疗联合或不联合米哚妥林治疗的疗效评价

Aspas Requena, Gaspar; Montesinos, Pau; Bérard, Emilie; Bertoli, Sarah; Rodríguez-Veiga, Rebeca; Simand, Celestine; Torres, Laura; Peterlin, Pierre; Tormo, Mar; Birsen, Rudy; Bergua-Burgues, Juan Miguel; Tavernier, Emmanuelle; Bernal Del Castillo, Teresa; Carré, Martin; Gil, Cristina; Contejean, Adrien; Rodríguez-Arbolí, Eduardo; Orvain, Corentin; Rodríguez-Medina, Carlos; Veronese, Lauren; Sayas Lloris, Maria Jose; Delabesse, Eric; Serrano, Josefina; Mineur, Ariane; García-Fortes, María; Guieze, Romain; Amigo, Maria Luz; Pigneux, Arnaud; Algarra Algarra, Lorenzo; Recher, Christian; Dumas, Pierre-Yves; Martínez-Cuadrón, David

Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes

QSER1中的剪接和移码变异可能与发育表型有关。

Fischer, Megan C; Reis, Linda M; Lenberg, Jerica; Friedman, Jennifer; Seese, Sarah E; Muheisen, Sanaa; Writzl, Karin; Golob, Barbara; Peterlin, Borut; Semina, Elena V

Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease

双等位基因RFC1扩增是早发性和家族性帕金森病的一种罕见病因

Kovanda, Anja; Šušmelj, Lara; Jaklič, Helena; Lukežič, Tadeja; Maver, Aleš; Petrovic, Igor; Miskovic, Natasa Dragasevic; Svetel, Marina; Rački, Valentino; Vuletič, Vladimira; Novakovic, Ivana; Peterlin, Borut

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Long-term follow-up and combined Phase 2 results of eprenetapopt and azacitidine in patients with TP53 mutant MDS/AML

长期随访及eprenetapopt联合阿扎胞苷治疗TP53突变型MDS/AML患者的II期联合试验结果

Sallman, David A; Komrokji, Rami S; Dezern, Amy E; Sebert, Marie; Garcia-Manero, Guillermo; Rahmé, Ramy; Winer, Eric S; Lehmann-Che, Jacqueline; Roboz, Gail J; Madelaine, Isabelle; Sekeres, Mikkael A; Peterlin, Pierre; Chan, Onyee; Beyne-Rauzy, Odile; Kuykendall, Andrew; Recher, Christian; McLemore, Amy; Stamatoullas, Aspasia; Zhang, Ling; Willems, Lise; Mo, Qianxing; Raffoux, Emmanuel; Nardelli, Lisa; Berthon, Céline; Al Ali, Najla H; Quesnel, Bruno; Padron, Eric; Kantarjian, Hagop M; List, Alan F; Ades, Lionel; Lancet, Jeffrey E; Fenaux, Pierre; Cluzeau, Thomas

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

Venetoclax and azacitidine for molecular relapse after intensive chemotherapy in NPM1 or CBF AML: a FILO study

维奈托克联合阿扎胞苷治疗NPM1或CBF AML患者强化化疗后分子复发:一项FILO研究

Higué, Jules; Orvain, Corentin; Dumas, Pierre-Yves; Peterlin, Pierre; Hospital, Marie-Anne; Barrière, Sabrina; Couturier, Audrey; Carre, Martin; Chantzi, Areti; Tavernier, Emmanuelle; Delabesse, Éric; Bidet, Audrey; Bouvier, Anne; Mozziconacci, Marie-Joelle; Véronèse, Lauren; Pastoret, Cédric; Tondeur, Sylvie; Flandrin-Gresta, Pascale; Lachot, Sébastien; Cazaux, Marine; Thépot, Sylvain; Forcade, Edouard; Chevallier, Patrice; Devillier, Raynier; Aspas Requena, Gaspar; Bertoli, Sarah; Pigneux, Arnaud; Récher, Christian

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

PRMT9基因双等位基因功能缺失变异会导致一种综合征型智力障碍。

Kröll-Hermi, Ariane; Stoetzel, Corinne; Etard, Christelle; Halabelian, Levon; Schaefer, Elise; Scheidecker, Sophie; Kahrizi, Kimia; Payman, Jamali; Geoffroy, Véronique; Prasad, Megana; Obringer, Cathy; Ruch, Laurie; Girard, Amandine; Zeng, Hong; Li, Fengling; Plassard, Damien; Keime, Céline; Mattioli, Francesca; Feger, Claire; Piton, Amélie; Fujita, Atsushi; Matsumoto, Naomichi; Castro, Matheus Augusto Araujo; Ae, Kim Chong; Ruaud, Lyse; Levy, Jonathan; Dozières, Blandine; Tabet, Anne-Claude; Wentzensen, Ingrid M; Santiago-Sim, Teresa; Yusupov, Roman; Tveten, Kristian; Smeland, Marie Falkenberg; Alkhunaizi, Ebba; Cowing, Gina; Li, Chumei; Wortmann, Saskia B; Feichtinger, René G; Mayr, Johannes A; Gonorazky, Herman; Jing, Gan; Wang, Xiaodong; Wang, Jia; Bierhals, Tatjana; Grinstein, Lev; Herget, Theresia; Ruiz, Anna; Gabau, Elisabeth; Kampmeier, Antje; Kassel, Olivier; Kuechler, Alma; Platzer, Konrad; Jamra, Rami Abou; Woerner, Audrey; Idleburg, Michaela; Kircher, Susanne Gerit; Laccone, Franco; Golob, Barbara; Peterlin, Borut; Čuturilo, Goran; Tasic, Velibor; Kolvenbach, Caroline M; Hildebrandt, Friedhelm; Ramos, Luiza L P; Kok, Fernando; Buck, Cecilia Barbosa; van de Laar, Ingrid M B H; de Man, Stella A; Taşdelen, Elifcan; Sezer, Abdullah; Büke, Afife; Yavuz, Zehra; Çomoğlu, Selim Selçuk; Costin, Carrie; Tran Mau Them, Frédéric; Lacaze, Elodie; Courtin, Thomas; Héron, Delphine; Keren, Boris; Whalen, Sandra; Roume, Joelle; Yang, Yanzhong; Hoffer, Mariëtte J V; van Haeringen, Arie; Najmabadi, Hossein; Arrowsmith, Cheryl H; Strähle, Uwe; Dollfus, Hélène; Muller, Jean

Dexamethasone added to induction and post-remission therapy in older patients with newly diagnosed acute myeloid leukemia: a multicenter, phase II trial (DEXAML-02)

在老年新诊断急性髓系白血病患者的诱导和缓解后治疗中加入地塞米松:一项多中心 II 期试验 (DEXAML-02)

Bertoli, Sarah; Bérard, Emilie; Peterlin, Pierre; Guieze, Romain; Desbrosses, Yohan; Hicheri, Yosr; Benbrahim, Omar; Carre, Martin; Orvain, Corentin; Banos, Anne; Bernard, Marc; Gyan, Emmanuel; Saad, Alain; Chebrek, Safia; Guepin, Gabrielle Roth; Dorvaux, Veronique; Sanhes, Laurence; Gallego-Hernanz, Maria Pilar; Exbrayat, Carole; Vincent, Laure; Himberlin, Chantal; Simand, Célestine; Vey, Norbert; Fenoll, Cindy; Mineur, Ariane; Huynh, Anne; Vergez, Francois; Luquet, Isabelle; Largeaud, Laetitia; Delabesse, Eric; Pigneux, Arnaud; Récher, Christian