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

BRCA cascade counselling and testing in Italy: current position and future directions

意大利BRCA级联咨询和检测:现状与未来方向

Costanzo, Silvia; Godino, Lea; De Summa, Simona; Marvulli, Tommaso Maria; Genuardi, Maurizio; Di Pietro, Maria Luisa; Cordisco, Emanuela Lucci; Turchetti, Daniela; Miccoli, Sara; Deledda, Giuseppe; Fantoni, Giovanna; Viassolo, Valeria; Brunetti, Oronzo; De Luca, Raffaele; Digennaro, Maria; Romito, Francesca; Campanella, Maria; Patruno, Margherita

Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population

遗传性出血性毛细血管扩张症的家族表型特征:意大利儿科人群的基因型-表型相关性

Giorgio, Valentina; Di Foggia, Chiara; Quatrale, Giovanna; Margiotta, Gaia; Stella, Giuseppe; Proli, Francesco; Leoni, Chiara; Onesimo, Roberta; Passali, Giulio Cesare; Contegiacomo, Andrea; Zampino, Giuseppe; Cordisco, Emanuela Lucci; Sonnini, Elena; Gasbarrini, Antonio; Gaetani, Eleonora

A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation

人类MLH1无序连接区中的一个保守基序对DNA错配修复至关重要,而一种癌症家族突变会削弱其功能。

Wolf, Karla; Kosinski, Jan; Gibson, Toby J; Wesch, Nicole; Dötsch, Volker; Genuardi, Maurizio; Cordisco, Emanuela Lucci; Zeuzem, Stefan; Brieger, Angela; Plotz, Guido

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

MUTYH相关性息肉病(MAP):欧洲常见突变p.Tyr179Cys和p.Gly396Asp起源于创始人事件的证据

Aretz, Stefan; Tricarico, Rossella; Papi, Laura; Spier, Isabel; Pin, Elisa; Horpaopan, Sukanya; Cordisco, Emanuela Lucci; Pedroni, Monica; Stienen, Dietlinde; Gentile, Annamaria; Panza, Anna; Piepoli, Ada; de Leon, Maurizio Ponz; Friedl, Waltraut; Viel, Alessandra; Genuardi, Maurizio