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

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11 : A Case Report and Literature Review

一种复杂的神经发育表型,类似于染色质病变,伴有7p重复和10p缺失,涉及ZMYND11基因:病例报告及文献综述

Tolosana, Jose M; Berne, Paola; Mont, Lluis; Heras, Magda; Berruezo, Antonio; Monteagudo, Joan; Tamborero, David; Benito, Begoña; Brugada, Josep; Minale, Elia Marco Paolo; Martone, Stefania; Criscuolo, Chiara; Marra, Roberta; Lasorsa, Vito Alessandro; Ruggiero, Raffaella; Suero, Teresa; Capasso, Mario; Andolfo, Immacolata; Iolascon, Achille; Russo, Roberta; Pinelli, Michele

Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias

SEC23B 和 PIEZO1 中多个遗传变异对遗传性贫血中铁代谢失衡的累加效应

Nostroso, Antonella; Marra, Roberta; Rosato, Barbara Eleni; Iscaro, Anthony; Esposito, Federica Maria; D'Onofrio, Vanessa; Dionisi, Manuela; Ribersani, Michela; Giordano, Francesca; Bulla, Anna; Del Vecchio, Giovanni Carlo; Scianguetta, Saverio; Mandrile, Giorgia; Ceglie, Teresa; Scudiero, Olga; Ferrero, Giovanni Battista; Perrotta, Silverio; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta

Efficacy of a Naturally Calcium and Magnesium-Rich Mineral Water on Musculoskeletal Fragility: A Randomized, Double-Blind Controlled Trial

富含天然钙镁矿泉水对肌肉骨骼脆弱性的疗效:一项随机、双盲对照试验

Moretti, Antimo; Liguori, Sara; Paoletta, Marco; Gimigliano, Francesca; Iolascon, Giovanni

Label-free blood cell separation for space health monitoring using a portable blast cell biochip

利用便携式原始细胞生物芯片进行无标记血细胞分离,用于太空健康监测

Mugnano, Martina; Cerbone, Vincenza; Villone, Massimiliano Maria; Montella, Annalaura; Scalia, Giulia; Capasso, Mario; Iolascon, Achille; Miccio, Lisa; Ferraro, Pietro; Mari, Silvia; Ferranti, Francesca; Maffettone, Pier Luca

The sarcopenia-pain connection: why mechanisms matter for patient care?

肌少症与疼痛之间的联系:为什么机制对患者护理至关重要?

Iolascon, Giovanni; Moretti, Antimo

Posture evaluation and treatment in adolescents through wearable technology: a systematic review

利用可穿戴技术对青少年姿势进行评估和治疗:系统评价

Liguori, Sara; Moretti, Antimo; Andreozzi, Viviana; Catalano, Claudio; Pontillo, Gabriele; Maresca, Luca; Riccio, Michele; Breglio, Giovanni; Paoletta, Marco; Gimigliano, Francesca; Iolascon, Giovanni

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

Selecting patients with sickle cell disease for gene addition or gene editing-based therapeutic approaches: Report on behalf of a joint EHA Specialized Working Group and EBMT Hemoglobinopathies Working Party consensus conference

选择镰状细胞病患者进行基因添加或基因编辑治疗:欧洲血液学协会 (EHA) 专业工作组和欧洲骨髓移植协会 (EBMT) 血红蛋白病工作组联合共识会议报告

de Franceschi, Lucia; Locatelli, Franco; Rees, David; Chabannon, Christian; Dalle, Jean-Hugues; Rivella, Stefano; Iolascon, Achille; Lobitz, Stephan; Abboud, Miguel R; de la Fuente, Josu; Flevari, Pagona; Angelucci, Emanuele; de Montalembert, Mariane

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

RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis

RAS 信号通路在调节脱水性遗传性口型红细胞增多症中 PIEZO1 介导的肝脏铁超载中起重要作用

Barbara Eleni Rosato, Vanessa D'Onofrio, Roberta Marra, Antonella Nostroso, Federica Maria Esposito, Anthony Iscaro, Vito Alessandro Lasorsa, Mario Capasso, Achille Iolascon, Roberta Russo, Immacolata Andolfo