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

Candida albicans Meningoencephalitis After Vestibular Schwannoma Surgery: An Autopsy-Confirmed Case Report

前庭神经鞘瘤手术后白色念珠菌脑膜脑炎:一例经尸检证实的病例报告

Camatti, Jessika; Tudini, Matteo; Bonasoni, Maria Paola; Santunione, Anna Laura; Cecchi, Rossana; Radheshi, Erjon; Carretto, Edoardo

Impact of bone-targeting agents on the clinical outcomes in patients with metastatic renal cell carcinoma treated with nivolumab: a sub-analysis of the Meet-URO 15 study

骨靶向药物对接受纳武利尤单抗治疗的转移性肾细胞癌患者临床结局的影响:Meet-URO 15 研究的亚组分析

Pantano, Francesco; Malgeri, Andrea; De Giorgi, Ugo; Maruzzo, Marco; Fornarini, Giuseppe; Zucali, Paolo; Fratino, Lucia; Milella, Michele; Pedrazzoli, Paolo; Procopio, Giuseppe; Stellato, Marco; Naglieri, Emanuele; Soto Parra, Hector; Napoli, Marilena Di; Mollica, Veronica; Tudini, Marianna; Pipitone, Stefania; Santoni, Matteo; Ricotta, Riccardo; Banna, Giuseppe Luigi; Catalano, Fabio; Cavo, Alessia; Vignani, Francesca; Masini, Cristina; Casadei, Chiara; Galli, Luca; Nolè, Franco; Sorarù, Mario; Prati, Veronica; Panni, Stefano; Roviello, Giandomenico; Prati, Giuseppe; Morelli, Franco; Messina, Carlo; Atzori, Francesco; Rescigno, Pasquale; Santini, Daniele; Buti, Sebastiano; Rebuzzi, Sara Elena

Almond Allergy in Children and Adults: A Narrative Review of Current Knowledge, Clinical Challenges, and Research Gaps

儿童和成人杏仁过敏:当前知识、临床挑战和研究空白的叙述性综述

Laura, Tudini; Giorgio, Colletti; Sonia, Iavarone; Paola, Moraca; Giulia, Brindisi; Anna Maria, Zicari; Caterina, Anania

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1、BRCA2 和 PALB2 相关范可尼贫血:拓展疾病表型特征并预测杂合子乳腺癌风险的潜力

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Consultation informs strategies for improving the use of functional evidence in variant classification

咨询为改进变异分类中功能证据的使用策略提供了信息。

Villani, Rehan M; Terrill, Bronwyn; Tudini, Emma; McKenzie, Maddison E; Cliffe, Corrina C; Hahn, Christopher N; Lundie, Ben; Mattiske, Tessa; Matotek, Ebony; McEwen, Abbye E; Nickerson, Sarah L; Breen, James; Fowler, Douglas M; Christodoulou, John; Starita, Lea; Rubin, Alan F; Spurdle, Amanda B

Sleep Characteristics in Individuals with Ehlers-Danlos Syndrome

埃勒斯-当洛斯综合征患者的睡眠特征

Crews-Stowe, Caitlin; Tudini, Frank; Jung, Min-Kyung; Forman, Jake; Riley, Bernadette; Eton, Stephanie; Levine, David

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

对 BRCA1、BRCA2 和 PALB2 相关范可尼贫血症的分析表明,可以扩展疾病表型特征并预测杂合子患乳腺癌的风险。

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; Garcia-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; de la Hoya, Miguel; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

ClinGen ENIGMA BRCA1 和 BRCA2 变异注释专家组针对基因特异性 ACMG/AMP 变异分类提出的循证建议

Parsons, Michael T; de la Hoya, Miguel; Richardson, Marcy E; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M; Chan, Raymond C; Cline, Melissa S; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; Leong, Huei San; Martins, Alexandra; Mensenkamp, Arjen R; Monteiro, Alvaro N; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A; Toland, Amanda E; Turnbull, Clare; Vogel, Maartje J; Weyandt, Jamie; Wiggins, George A R; Zec, Lauren; Couch, Fergus J; Walker, Logan C; Vreeswijk, Maaike P G; Goldgar, David E; Spurdle, Amanda B

Sodium levels and immunotherapy efficacy in mRCC patients with bone metastases: sub analysis of Meet-Uro 15 study

肾细胞癌骨转移患者的钠水平与免疫疗法疗效:Meet-Uro 15 研究的亚组分析

Catalano, Martina; Rebuzzi, Sara Elena; Maruzzo, Marco; De Giorgi, Ugo; Buti, Sebastiano; Galli, Luca; Fornarini, Giuseppe; Zucali, Paolo Andrea; Claps, Melanie; Chiellino, Silvia; Zampiva, Ilaria; Pipitone, Stefania; Ricotta, Riccardo; Sorarù, Mariella; Mollica, Veronica; Tudini, Marianna; Fratino, Lucia; Prati, Veronica; Caffo, Orazio; Atzori, Francesco; Morelli, Franco; Prati, Giuseppe; Nolè, Franco; Vignani, Francesca; Cavo, Alessia; Di Napoli, Marilena; Malgeri, Andrea; Naglieri, Emanuele; Signori, Alessio; Banna, Giuseppe Luigi; Rescigno, Pasquale; Cerbone, Linda; Antonuzzo, Lorenzo; Roviello, Giandomenico

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

一名表型正常的男性携带 BRCA1 外显子 20 重复,该重复与 BRCA1 移码变异呈反式关系。

Block, Ines; Mateu-Regué, Àngels; Do, Thi Tuyet Nhu; Miceikaite, Ieva; Sdogati, Daniel; Larsen, Martin J; Hao, Qin; Nielsen, Henriette Roed; Boonen, Susanne E; Skytte, Anne-Bine; Jensen, Uffe Birk; Høffding, Louise K; De Nicolo, Arcangela; Viel, Alessandra; Tudini, Emma; Parsons, Michael T; Hansen, Thomas V O; Rossing, Maria; Kruse, Torben A; Spurdle, Amanda B; Thomassen, Mads