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

Differential prognostic impact of myelodysplasia-related gene mutations in a European cohort of 4978 intensively treated AML patients

欧洲4978例接受强化治疗的急性髓系白血病患者队列中,骨髓增生异常相关基因突变对预后的影响存在差异。

Bill, Marius; Eckardt, Jan-Niklas; Döhner, Konstanze; Röhnert, Maximillian-Alexander; Rausch, Christian; Metzeler, Klaus H; Spiekermann, Karsten; Stasik, Sebastian; Wurm, Alexander A; Sauer, Tim; Scholl, Sebastian; Schnetzke, Ulf; Hochhaus, Andreas; Crysandt, Martina; Brümmendorf, Tim H; Krug, Utz; Wörmann, Bernhard; Einsele, Hermann; Hiddemann, Wolfgang; Görlich, Dennis; Sauerland, Cristina; Steffen, Björn; Neubauer, Andreas; Burchert, Andreas; Schäfer-Eckart, Kerstin; Berdel, Wolfgang E; Schliemann, Christoph; Krause, Stefan W; Hänel, Mathias; Hanoun, Maher; Kaufmann, Martin; Fransecky, Lars; Braess, Jan; Schetelig, Johannes; Middeke, Jan Moritz; Bullinger, Lars; Heuser, Michael; Thol, Felicitas; Serve, Hubert; Baldus, Claudia D; Platzbecker, Uwe; Müller-Tidow, Carsten; Válka, Jan; Šrámek, Jiří; Weinbergerova, Barbora; Mayer, Jiri; Dumas, Pierre-Yves; Bertoli, Sarah; Delabesse, Eric; Récher, Christian; Pigneux, Arnaud; Herold, Tobias; Ganser, Arnold; Döhner, Hartmut; Bornhäuser, Martin; Thiede, Christian; Röllig, Christoph

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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱:剪接位点变异的重要性

Westenberger, Ana; Verdura, Edgard; Radefeldt, Mandy; Sanderson, Leslie E; Tripolszki, Kornelia; Marcé-Grau, Anna; Cazurro-Gutiérrez, Ana; Nikoncuk, Anita; Herzog, Rebecca; Al-Ali, Ruslan; Ferreira, Mariana; Almeida, Ligia S; Silveira, Tainá Regina Damaceno; Khan, Suliman; Maia, Raphael Doyle; Klivényi, Péter; Salamon, András; Baltaci, Volkan; Subasioglu, Asli; Prada-Arismendy, Jeanette; Čuturilo, Goran; Loens, Sebastian; Tadic, Vera; Maystadt, Isabelle; Karadurmus, Deniz; Leube, Barbara; De Winter, Jonathan; Monticelli, Alice; De Waele, Liesbeth; Baets, Jonathan; Vinkšel, Mateja; Maver, Aleš; Tschopp, Lorena; Ziegler, Gabriela; Sanguinetti, Ana; Lohmann, Katja; Barakat, Tahsin Stefan; Bauer, Peter; Perez-Dueñas, Belén; Bertoli-Avella, Aida M

Hypokalaemia and bradycardia unmask the loss-of-function phenotype of a Brugada Syndrome SCN5A mutation.

低钾血症和心动过缓揭示了 Brugada 综合征 SCN5A 突变的功能丧失表型。

Frosio Anthony, Marchese Procolo, Bertoli Giorgia, Molla David, Arici Martina, Bartolucci Chiara, Piantoni Chiara, Guidi Giulia, Bazzini Claudia, Benzoni Patrizia, Milanesi Raffaella, Fortunato Antonio, Grossi Pierfrancesco, Pianese Luigi, Wang Yi, Cappato Riccardo, Nardini Marco, Severi Stefano, Bucchi Annalisa, Rocchetti Marcella, Baruscotti Mirko

Salvia pratensis exhibits in vitro anti-cancer effects in triple-negative breast cancer through miR-34a-5p signaling

鼠尾草通过 miR-34a-5p 信号通路在体外对三阴性乳腺癌表现出抗癌作用

Gervasoni, Clarissa; Ceriani, Chiara; Lanzotti, Aurora; Negri, Stefano; Guzzo, Flavia; Pirovano, Fabio; Galuzzi, Bruno Giovanni; Annè, Francesca; Inguscio, Alessandra; Lo Dico, Alessia; Porro, Danilo; Bertoli, Gloria Rita

What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis

临床遗传学中的风险是什么?利用失效模式与效应分析法设计和试用评估临床遗传学风险的工具

Lambert, Deborah M; Stewart, Helen; Bandiola, Mari; Bertoli, Marta; Butterly, Dearbhla; Kuismin, Outi; Moilanen, Jukka; Rea, Gillian; Streata, Ioana; Griffin, Anna; McGrath, Vicky; Behan, Deborah; Coen, Natasha; King, Sheila; Kilroe, Elaine; Ward, Alana J; Lynch, Sally Ann

Characteristics of patients diagnosed for acute myeloid leukemia before and during the 2020 COVID-19 pandemic: the DATAML population-based cohort

2020 年 COVID-19 大流行前后急性髓系白血病患者的特征:DATAML 人群队列研究

Lamy, Sébastien; Fenni, Raphaël; Tavitian, Suzanne; Lapierre, Léopoldine; Leguay, Thibaut; Galtier, Jean; Sarry, Audrey; De-Grande, Anne-Charlotte; Berard, Emilie; Pigneux, Arnaud; Récher, Christian; Dumas, Pierre-Yves; Bertoli, Sarah

Profiling of circulating immune factors and host-derived extracellular vesicles in response to bacterial or malaria acute fever

对细菌性或疟疾急性发热反应中循环免疫因子和宿主来源的细胞外囊泡进行分析

Tiberti, Natalia; Bertoli, Giulia; Mazzi, Cristina; Vezzelli, Elisabetta; Zanzoni, Serena; Alladio, Francesca; Bisoffi, Zeno; Tamarozzi, Francesca; Piubelli, Chiara; Buonfrate, Dora; Gobbi, Federico Giovanni

Nutritional knowledge in patients with severe obesity during a residential rehabilitation: the relationships with socio-demographic variables

重度肥胖患者在住院康复期间的营养知识:与社会人口学变量的关系

Mambrini, Sara Paola; Vinci, Calogero; Soranna, Davide; Sola, Daniele; Barbieri, Valerio; Bussi, Isabella; Rendina, Renata; Zambon, Antonella; Bertoli, Simona; Scacchi, Massimo