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

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)

ERN GENTURIS 指南:为患有癌症易感综合征(包括 Genturis)的个体提供生育选择咨询

Farschtschi, Said C; Kumps, Candy; Milagre, Tamara Hussong; Makrythanasis, Periklis; Van Tongerloo, Ariane; Denayer, Ellen; van Kouwen, Mariëtte; Carrasco López, Estela; Berghoff, Anna Sophie; Testa, Salvo; Cesaretti, Claudia; Trevisson, Eva; d' Oliveira, Renata; Fianchi, Francesca; Röhl, Claas; Salinas-Chaparro, Diana; Slegers, Ileen; Geilswijk, Marianne; Suerink, Manon; Spinelli, Irene; Janssens, Sandra; Pugh, Sarah; Sønderberg Roos, Laura Kirstine

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer

1型神经纤维瘤病相关乳腺癌的亚型分布、临床表现和分子谱

Di Giosaffatte, Niccolò; Daniele, Paola; Petrizzelli, Francesco; Iacovino, Chiara; Canciani, Chiara; Garau, Maria Luisa; Santoro, Claudia; Trevisan, Valentina; Panfili, Arianna; Cavone, Stefania; Guida, Valentina; D'Asdia, Maria Cecilia; Bernardini, Laura; Majore, Silvia; Ferraris, Alessandro; Valiante, Michele; Gensini, Francesca; Radio, Francesca Clementina; Tortora, Giada; Cassina, Matteo; Miele, Giuseppina; Priolo, Manuela; Sirchia, Fabio; Piccinno, Ludovica; Flex, Elisabetta; Zampino, Giuseppe; Genuardi, Maurizio; Nigro, Vincenzo; Salviati, Leonardo; Papi, Laura; Grammatico, Paola; Leoni, Chiara; Piluso, Giulio; Giustini, Sandra; Mazza, Tommaso; Upadhyaya, Meena; Tartaglia, Marco; Trevisson, Eva; De Luca, Alessandro

Impact of ChatGPT usage on nursing students education: A cross-sectional study

ChatGPT 使用对护理学生教育的影响:一项横断面研究

Gonzalez-Garcia, Alberto; Bermejo-Martinez, David; Lopez-Alonso, Ana Isabel; Trevisson-Redondo, Bibiana; Martín-Vázquez, Cristian; Perez-Gonzalez, Silvia

A novel germline NF1 splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response

一种新型的种系NF1剪接变异驱动了一位对纳武利尤单抗治疗反应稳定且持久的患者发生肛门直肠黏膜黑色素瘤。

Berrino, Enrico; Bellomo, Sara Erika; Mastorino, Luca; Morbidoni, Valeria; Crosetto, Nicola; Sapino, Anna; Sarotto, Ivana; Chesta, Anita; Gianluca, Avallone; Quaglino, Pietro; Zampieri, Daniela; Senetta, Rebecca; Trevisson, Eva; Marchiò, Caterina; Ribero, Simone

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

鉴定出一种新的COQ4剪接变异体,该变异体可导致严重的原发性辅酶Q缺乏症。

Alcázar-Fabra, María; Østergaard, Elsebet; Fernández-Ayala, Daniel J M; Desbats, María Andrea; Morbidoni, Valeria; Tomás-Gallado, Laura; García-Corzo, Laura; Blanquer-Roselló, María Del Mar; Bartlett, Abigail K; Sánchez-Cuesta, Ana; Sena, Lucía; Cortés-Rodríguez, Ana; Cascajo-Almenara, María Victoria; Pagliarini, David J; Trevisson, Eva; Gronborg, Sabine W; Brea-Calvo, Gloria

COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells

在真核细胞中,辅酶Q4是辅酶Q C1碳氧化脱羧所必需的。

Ludovic Pelosi ,Laura Morbiato ,Arthur Burgardt ,Fiorella Tonello ,Abigail K Bartlett ,Rachel M Guerra ,Katayoun Kazemzadeh Ferizhendi ,Maria Andrea Desbats ,Bérengère Rascalou ,Marco Marchi ,Luis Vázquez-Fonseca ,Caterina Agosto ,Giuseppe Zanotti ,Morgane Roger-Margueritat ,María Alcázar-Fabra ,Laura García-Corzo ,Ana Sánchez-Cuesta ,Plácido Navas ,Gloria Brea-Calvo ,Eva Trevisson ,Volker F Wendisch ,David J Pagliarini ,Leonardo Salviati ,Fabien Pierrel

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms

基于酵母的检测方法证实了与主动脉瘤相关的新型错义ACTA2变异体的致病性

Calderan, Cristina; Sorrentino, Ugo; Persano, Luca; Trevisson, Eva; Sartori, Geppo; Salviati, Leonardo; Desbats, Maria Andrea

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

ERF基因功能缺失变异与伴或不伴颅缝早闭的努南综合征样表型相关

Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cavé, Helene; Digilio, Maria Cristina; Tartaglia, Marco

Implementing a prenatal health screening intervention for future fathers in Montreuil, France: most users are immigrants facing hardship

在法国蒙特勒伊为准爸爸们实施产前健康筛查干预措施:大多数用户是面临困境的移民

Penot, Pauline; Jacob, Gaëlle; Guerizec, Audrey; Trevisson, Clotilde; Letembet, Valérie-Anne; Harich, Raya; Phuong, Thomas; Renevier, Bruno; Manuellan, Pierre-Etienne; du Loû, Annabel Desgrées

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis

典型的 NF2 和 LTZR1 突变在永生化的人类神经鞘瘤细胞模型中得到保留

Valentina Melfi, Tasnim Mohamed, Alessandra Colciago, Alessandra Fasciani, Raffaele De Francesco, Daniela Bettio, Cristina Cerqua, Francesca Boaretto, Elisabetta Basso, Stefano Ferraresi, Marco Montini, Marica Eoli, Laura Papi, Eva Trevisson, Valerio Magnaghi