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

Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis

利用母体血液进行基于单细胞的无创胎儿致病微失衡筛查:与侵入性产前诊断的比较

Stampalija, T; Forcato, C; Grati, F R; Volpe, P; De Robertis, V; Izzi, C; Bertucci, E; Fabietti, I; Novelli, A; Ornaghi, S; Pasquini, L; Bevilacqua, E; Paladini, D; Ghi, T; Lattuada, D; Dori, M; Mercatelli, D; Dal Molin, A; Buson, G; Bolognesi, C; Doffini, A; Musci, T J; Ferrazzi, E

AAV-mediated inner ear gene delivery triggers mild host immune responses in the mammalian inner ear.

AAV介导的内耳基因递送可引发哺乳动物内耳中轻微的宿主免疫反应

Ishibashi Yasuko, Zhu Jianliang, Gernoux Gwladys, Yu Yunkai, Suh Michelle J, Isgrig Kevin, Grati Mhamed, Olszewski Rafal, Hoa Michael, Liang Cao, Friedman Thomas B, Adjali Oumeya, Chien Wade W

High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer

早期发病的三阴性乳腺癌患者中,BRCA1 表观遗传突变的患病率很高

Schwartz, Mathias; Ibadioune, Sabrina; Delhomelle, Hélène; Barraud, Solenn; Caputo, Sandrine M; Trabelsi-Grati, Olfa; Villy, Marie-Charlotte; Laugé, Anthony; Tang, Roseline; Rouleau, Etienne; Mouret-Fourme, Emmanuelle; Stoppa-Lyonnet, Dominique; Pasmant, Éric; Golmard, Lisa; Colas, Chrystelle; Bièche, Ivan

Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoter

甲基化敏感高分辨率熔解技术是一种简单灵敏的检测MLH1基因启动子种系表观突变的方法。

Delhomelle, Hélène; Trabelsi-Grati, Olfa; Villy, Marie-Charlotte; Ibadioune, Sabrina; Maraone, Frederic; Séné, Mathieu; Buecher, Bruno; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Johannes, Faustine; Golmard, Lisa; Vincent-Salomon, Anne; Pasmant, Eric; Leclerc, Julie; Bahuau, Michel; Bièche, Ivan; Colas, Chrystelle

Counseling prior to cfDNA screening: are we giving the right numbers?

cfDNA筛查前的咨询:我们提供的数值是否正确?

Elger, Tania; Sonek, Jiri; Prodan, Natalia; Hoopmann, Markus; Grati, Francesca Romana; Kagan, Karl Oliver

Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU)

植入前遗传学检测 (PGT) 后的产前诊断:意大利人类遗传学会 (SIGU) 的建议

Grati, Francesca Romana; Capalbo, Antonio; Gabbiato, Ilaria; Battaglia, Paola; Pittalis, Maria Carla; Bizzoco, Domenico; Cardarelli, Laura; Gatta, Valentina; Lonardo, Fortunato; Novelli, Antonio; Bernardini, Laura; Zuccarello, Daniela

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

22q11.2缺失综合征的产前诊断与产后诊断:1岁前的心脏和非心脏结局

Freud, Lindsay R; Galloway, Stephanie; Crowley, T Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kaźmierczak, Anna; Vermeesch, Joris R; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl-Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Achón Buil, Ana; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; Wilkins-Haug, Louise; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; McGlynn, Julie; Romana Grati, Francesca; Emanuel, Beverly S; Gaiser, Kimberly; Gaynor, J William; Goldmuntz, Elizabeth; McGinn, Daniel E; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H; Yan, Qi; Bassett, Anne S; Wapner, Ronald; McDonald-McGinn, Donna M

Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine

在临床常规中,利用定制的NGS panel进行肿瘤突变负荷评估和标准化生物信息学方法

Dupain, Célia; Gutman, Tom; Girard, Elodie; Kamoun, Choumouss; Marret, Grégoire; Castel-Ajgal, Zahra; Sablin, Marie-Paule; Neuzillet, Cindy; Borcoman, Edith; Hescot, Ségolène; Callens, Céline; Trabelsi-Grati, Olfa; Melaabi, Samia; Vibert, Roseline; Antonio, Samantha; Franck, Coralie; Galut, Michèle; Guillou, Isabelle; Halladjian, Maral; Allory, Yves; Cyrta, Joanna; Romejon, Julien; Frouin, Eleonore; Stoppa-Lyonnet, Dominique; Wong, Jennifer; Le Tourneau, Christophe; Bièche, Ivan; Servant, Nicolas; Kamal, Maud; Masliah-Planchon, Julien

Early-Onset Hearing Loss in Mouse Models of Alzheimer's Disease and Increased DNA Damage in the Cochlea

阿尔茨海默病小鼠模型中早发性听力损失和耳蜗 DNA 损伤增加

Jae-Hyeon Park, Burcin Duan Sahbaz, Komal Pekhale, Xixia Chu, Mustafa N Okur, Mhamed Grati, Kevin Isgrig, Wade Chien, Elena Chrysostomou, Lauren Sullivan, Deborah L Croteau, Uri Manor, Vilhelm A Bohr

Early-Onset Hearing Loss in Mouse Models of Alzheimer's Disease and Increased DNA Damage in the Cochlea

阿尔茨海默病小鼠模型中早期听力丧失和耳蜗DNA损伤增加

Jae-Hyeon Park,Burcin Duan Sahbaz,Komal Pekhale,Xixia Chu,Mustafa N Okur,Mhamed Grati,Kevin Isgrig,Wade Chien,Elena Chrysostomou,Lauren Sullivan,Deborah L Croteau,Uri Manor,Vilhelm A Bohr