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

From Tissue Architecture To Genetic Signature: Artificial intelligence-based Analysis of Reticulin Framework and Clinical Variables Predicts Molecular Cluster in Paragangliomas

从组织结构到基因特征:基于人工智能的网状纤维框架和临床变量分析预测副神经节瘤的分子簇

Duregon, Eleonora; Parasiliti-Caprino, Mirko; Orlando, Giulia; Ferrero, Anna Paola; Bollati, Martina; Pedrosa, Rute; Kumar, Darshan; Giraudo, Giuseppe; Pasini, Barbara; Ghigo, Ezio; Arvat, Emanuela; Volante, Marco; Maccario, Mauro; Papotti, Mauro

Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes

黑色素瘤及相关遗传性癌症综合征中的种系非CDKN2A变异

Fiasconaro, Chiara Anna; Carbone, Alice; Giordano, Silvia; Cavallo, Francesco; Fava, Paolo; Pasini, Barbara; Yakymiv, Yuliya; Marchisio, Sara; Quaglino, Pietro; Ribero, Simone; Roccuzzo, Gabriele

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

对神经发育障碍患者进行DNA甲基化分析,可以提高变异解读的准确性并揭示其复杂性。

Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo

The Impact of the G6PD Gene Mutations in Patients with Chronic Hepatitis C Infection Treated with Direct-Acting Antivirals: A Multicenter Observational Study

G6PD基因突变对接受直接抗病毒药物治疗的慢性丙型肝炎患者的影响:一项多中心观察性研究

Smirne, Carlo; Crobu, Maria Grazia; Gerevini, Chiara; Berton, Alessandro Maria; Rapetti, Rachele; Pasini, Barbara; Ravanini, Paolo; Pirisi, Mario

Identification of a robust DNA methylation signature for Fanconi anemia

鉴定出范可尼贫血症的可靠DNA甲基化特征

Pagliara, Daria; Ciolfi, Andrea; Pedace, Lucia; Haghshenas, Sadegheh; Ferilli, Marco; Levy, Michael A; Miele, Evelina; Nardini, Claudia; Cappelletti, Camilla; Relator, Raissa; Pitisci, Angela; De Vito, Rita; Pizzi, Simone; Kerkhof, Jennifer; McConkey, Haley; Nazio, Francesca; Kant, Sarina G; Di Donato, Maddalena; Agolini, Emanuele; Matraxia, Marta; Pasini, Barbara; Pelle, Alessandra; Galluccio, Tiziana; Novelli, Antonio; Barakat, Tahsin Stefan; Andreani, Marco; Rossi, Francesca; Mecucci, Cristina; Savoia, Anna; Sadikovic, Bekim; Locatelli, Franco; Tartaglia, Marco

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

未解决的神经发育疾病病例中 X 染色体失活偏倚可指导对 X 连锁基因的重新评估

Giovenino Chiara, Trajkova Slavica, Pavinato Lisa, Cardaropoli Simona, Pullano Verdiana, Ferrero Enza, Sukarova-Angelovska Elena, Carestiato Silvia, Salmin Paola, Rinninella Antonina, Battaglia Anthony, Bertoli Luca, Fadda Antonio, Palermo Flavia, Carli Diana, Mussa Alessandro, Dimartino Paola, Bruselles Alessandro, Froukh Tawfiq, Mandrile Giorgia, Pasini Barbara, De Rubeis Silvia, Buxbaum Joseph D, Pippucci Tommaso, Tartaglia Marco, Rossato Marzia, Delledonne Massimo, Ferrero Giovanni Battista, Brusco Alfredo

Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center

家族性黑色素细胞病变的表型和皮肤镜特征:三级中心的一项初步研究

Roccuzzo, Gabriele; Giordano, Silvia; Granato, Thomas; Cavallo, Francesco; Mastorino, Luca; Avallone, Gianluca; Pasini, Barbara; Quaglino, Pietro; Ribero, Simone

Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event

范可尼贫血症中通过基因转换事件实现的表型逆转可被视为一种“天然基因疗法”。

Persico, Ilaria; Fiscarelli, Ilaria; Pelle, Alessandra; Faleschini, Michela; Pasini, Barbara; Savoia, Anna; Bottega, Roberta

A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report

一种导致后部皮质萎缩的新型PSEN1变异:病例报告

Roveta, Fausto; Marcinnò, Andrea; Grassini, Alberto; Ferrandes, Fabio; Cermelli, Aurora; Boschi, Silvia; Gallone, Salvatore; Atzori, Cristiana; Imperiale, Daniele; Dentelli, Patrizia; Pasini, Barbara; Brusco, Alfredo; Rubino, Elisa; Rainero, Innocenzo

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

携带 BRCA1 和 BRCA2 致病性错义变异的女性患乳腺癌和卵巢癌的风险与携带蛋白质截短变异的女性相比

Li, Hongyan; Engel, Christoph; de la Hoya, Miguel; Peterlongo, Paolo; Yannoukakos, Drakoulis; Livraghi, Luca; Radice, Paolo; Thomassen, Mads; Hansen, Thomas V O; Gerdes, Anne-Marie; Nielsen, Henriette R; Caputo, Sandrine M; Zambelli, Alberto; Borg, Ake; Solano, Angela; Thomas, Abigail; Parsons, Michael T; Antoniou, Antonis C; Leslie, Goska; Yang, Xin; Chenevix-Trench, Georgia; Caldes, Trinidad; Kwong, Ava; Pedersen, Inge Søkilde; Lautrup, Charlotte K; John, Esther M; Terry, Mary Beth; Hopper, John L; Southey, Melissa C; Andrulis, Irene L; Tischkowitz, Marc; Janavicius, Ramunas; Boonen, Susanne E; Kroeldrup, Lone; Varesco, Liliana; Hamann, Ute; Vega, Ana; Palmero, Edenir I; Garber, Judy; Montagna, Marco; Van Asperen, Christi J; Foretova, Lenka; Greene, Mark H; Selkirk, Tina; Moller, Pal; Toland, Amanda E; Domchek, Susan M; James, Paul A; Thorne, Heather; Eccles, Diana M; Nielsen, Sarah M; Manoukian, Siranoush; Pasini, Barbara; Caligo, Maria A; Lazaro, Conxi; Kirk, Judy; Wappenschmidt, Barbara; Spurdle, Amanda B; Couch, Fergus J; Schmutzler, Rita; Goldgar, David E