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

CTpredX: Enhancing missense variant pathogenicity prediction in childhood cancer predisposition genes

CTpredX:增强儿童癌症易感基因错义变异致病性预测

Bonfiglio, Ferdinando; Lasorsa, Vito Alessandro; Pirozzi, Giampiero; Iolascon, Achille; Capasso, Mario

Human CAZyme genes polymorphism and risk of IBS: a population-based study

人类碳水化合物活性酶基因多态性与肠易激综合征风险:一项基于人群的研究

Torices, Leire; Zamfir-Taranu, Andreea; Esteban-Blanco, Cristina; Bozzarelli, Isotta; Bonfiglio, Ferdinando; D'Amato, Mauro

Sucrase-isomaltase hypomorphic variant Val15Phe affects the response to a sucrose challenge test in patients with IBS

蔗糖酶-异麦芽糖酶低活性变体Val15Phe会影响肠易激综合征患者对蔗糖激发试验的反应。

Zamfir-Taranu, Andreea; Löscher, Britt-Sabina; Franke, Andre; Bonfiglio, Ferdinando; Ohlsson, Bodil; D'Amato, Mauro

Loss of CYLD promotes splenic marginal zone lymphoma.

CYLD 的缺失会促进脾边缘区淋巴瘤的发生

Pseftogas Athanasios, Bordini Jessica, Heltai Silvia, Bonfiglio Ferdinando, Gavriilidis Georgios, Vasileiou Vasileios, Keisaris Sofoklis, Belloni Daniela, Taccetti Caterina, Ranghetti Pamela, Perotta Eleonora, Frenquelli Michela, Sarkar Uday Aditya, Albi Elisa, Martini Francesca, Sant'Antonio Emmanuela, Mavilia Fabrizio, Psomopoulos Fotis, Daibata Manasori, Martínez Climent José Ángel, Mosialos George, Rossi Davide, Campanella Alessandro, Scarfò Lydia, Stamatopoulos Kostas, Xanthopoulos Konstantinos, Ghia Paolo

The Non-Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting HSD17B12 Expression and Lipid Metabolism.

位于 chr11p11.2 的非编码调控变异 rs2863002 通过影响 HSD17B12 表达和脂质代谢来增加神经母细胞瘤的风险

Maiorino Teresa, Avitabile Marianna, Aievola Vincenzo, Montella Annalaura, Lasorsa Vito A, Bonfiglio Ferdinando, Cantalupo Mariagrazia, Cantalupo Sueva, Estinto Gilda, Tirelli Matilde, Morini Martina, Ardito Martina, Eva Alessandra, Cerbone Vincenza, Mauriello Lucia, Caterino Marianna, Ruoppolo Margherita, Maris John M, Diskin Sharon J, Iolascon Achille, Capasso Mario

Combined tumor-associated microbiome and immune gene expression profiling predict response to neoadjuvant chemo-radiotherapy in locally advanced rectal cancer

肿瘤相关微生物组和免疫基因表达谱联合分析可预测局部晚期直肠癌新辅助放化疗的疗效

Roesel, Raffaello; Strati, Francesco; Basso, Camilla; Epistolio, Samantha; Spina, Paolo; Djordjevic, Julija; Sorrenti, Elisa; Villa, Martina; Cianfarani, Agnese; Mongelli, Francesco; Galafassi, Jacopo; Popeskou, Sotirios G; Facciotti, Federica; Caprera, Cecilia; Melle, Federica; Majno-Hurst, Pietro Edoardo; Franzetti-Pellanda, Alessandra; De Dosso, Sara; Bonfiglio, Ferdinando; Frattini, Milo; Christoforidis, Dimitrios; Iezzi, Giandomenica

Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients

蔗糖酶-异麦芽糖酶基因型与IBS-D患者对减少淀粉和蔗糖饮食的反应

Zamfir-Taranu, Andreea; Löscher, Britt-Sabina; Husein, Diab M; Hoter, Abdullah; Garcia-Etxebarria, Koldo; Etxeberria, Usune; Gayoso, Lucía; Mayr, Gabriele; Nilholm, Clara; Gustafsson, Rita J; Ozaydin, Oliver; Zheng, Tenghao; Esteban-Blanco, Cristina; Bozzarelli, Isotta; Bonfiglio, Ferdinando; Rizk, Sandra; Franke, Andre; Bujanda, Luis; Naim, Hassan Y; Ohlsson, Bodil; D'Amato, Mauro

Rome III Criteria Capture Higher Irritable Bowel Syndrome SNP-Heritability and Highlight a Novel Genetic Link With Cardiovascular Traits

罗马III标准能够捕捉到更高的肠易激综合征SNP遗传力,并揭示其与心血管性状的新型遗传联系

Camargo Tavares, Leticia; Lopera-Maya, Esteban Alexander; Bonfiglio, Ferdinando; Zheng, Tenghao; Sinha, Trishla; Zanchetta Marques, Francine; Zhernakova, Alexandra; Sanna, Serena; D'Amato, Mauro

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

二代和三代测序数据中种系变异和DNA甲基化分析的最佳实践

Bonfiglio, Ferdinando; Legati, Andrea; Lasorsa, Vito Alessandro; Palombo, Flavia; De Riso, Giulia; Isidori, Federica; Russo, Silvia; Furini, Simone; Merla, Giuseppe; Coppedè, Fabio; Tartaglia, Marco; Bruselles, Alessandro; Pippucci, Tommaso; Ciolfi, Andrea; Pinelli, Michele; Capasso, Mario

Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation.

整合基因组分析可识别参与神经元分化的神经母细胞瘤风险基因

Tirelli Matilde, Bonfiglio Ferdinando, Cantalupo Sueva, Montella Annalaura, Avitabile Marianna, Maiorino Teresa, Diskin Sharon J, Iolascon Achille, Capasso Mario