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

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome

RAF1相关努南综合征中特定区域的表型特征

Gazzin, Andrea; Calvo, Marta; Rondot, Federico; Reynolds, Giuseppe; Leoni, Chiara; Niceta, Marcello; Dentici, Maria Lisa; Digilio, Maria Cristina; Lepri, Francesca; Monda, Emanuele; Carelli, Ilaria; Trevisson, Eva; Scala, Iris; Mancano, Giorgia; Andreucci, Elena; Stanzial, Franco; Brancati, Francesco; Zampino, Giuseppe; Tarani, Luigi; Paparella, Roberto; Carli, Diana; Villar, Anna Maria; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Daniele, Paola; Airulo, Elena; Riggi, Chiara; Calcagni, Giulio; Ferrero, Giovanni Battista; Limongelli, Giuseppe; De Luca, Alessandro; Tartaglia, Marco; Mussa, Alessandro

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

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

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

A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature

误诊的家族性布鲁克-施皮格勒综合征:病例报告及文献综述

Brambullo, Tito; De Lazzari, Alberto; Franchi, Arianna; Trevisson, Eva; Garau, Maria Luisa; Scarmozzino, Federico; Vindigni, Vincenzo; Bassetto, Franco

Ambra1 deficiency impairs mitophagy in skeletal muscle

Ambra1 缺陷会损害骨骼肌中的线粒体自噬。

Gambarotto, Lisa; Metti, Samuele; Chrisam, Martina; Cerqua, Cristina; Sabatelli, Patrizia; Armani, Andrea; Zanon, Carlo; Spizzotin, Marianna; Castagnaro, Silvia; Strappazzon, Flavie; Grumati, Paolo; Cescon, Matilde; Braghetta, Paola; Trevisson, Eva; Cecconi, Francesco; Bonaldo, Paolo

Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

整合CGH/WES分析增进了对侵袭性神经母细胞瘤演变过程的理解:病例研究

Corallo, Diana; Zanon, Carlo; Pantile, Marcella; Tonini, Gian Paolo; Zin, Angelica; Francescato, Samuela; Rossi, Bartolomeo; Trevisson, Eva; Pinato, Claudia; Monferrer, Ezequiel; Noguera, Rosa; Aliño, Salvador F; Herrero, Maria Jose; Biffi, Alessandra; Viscardi, Elisabetta; Aveic, Sanja