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

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

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

Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy

VPS13A缺陷导致的骨骼肌过早衰老与自噬功能受损有关

Riccardi, Veronica; Viscomi, Carlo Fiore; Sandri, Marco; D'Alessandro, Angelo; Dzieciatkowska, Monika; Stephenson, Daniel; Federti, Enrica; Hermann, Andreas; Salviati, Leonardo; Siciliano, Angela; Andolfo, Immacolata; Alper, Seth L; Ceolan, Jacopo; Iolascon, Achille; Vattemi, Gaetano; Danek, Adrian; Walker, Ruth H; Mensch, Alexander; Otto, Markus; Deschauer, Marcus; Armbrust, Moritz; Beninca', Cristiane; Salari, Valentina; Fabene, Paolo; Peikert, Kevin; De Franceschi, Lucia

Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia

关于缺铁和缺铁性贫血的诊断、治疗和预防的建议

Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta; Sanchez, Mayka; Busti, Fabiana; Swinkels, Dorine; Aguilar Martinez, Patricia; Bou-Fakhredin, Rayan; Muckenthaler, Martina U; Unal, Sule; Porto, Graça; Ganz, Tomas; Kattamis, Antonis; De Franceschi, Lucia; Cappellini, Maria Domenica; Munro, Malcolm G; Taher, Ali

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation

GNAS基因的基因型-表型相关性:热点突变的综述和疾病管理

Cipriano, Lorenzo; Ferrigno, Rosario; Andolfo, Immacolata; Russo, Roberta; Cioffi, Daniela; Savanelli, Maria Cristina; Pellino, Valeria; Klain, Antonella; Iolascon, Achille; Piscopo, Carmelo

P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model.

P2 受体拮抗剂可挽救体外 SLC25A38 相关先天性铁粒幼细胞性贫血细胞模型中缺陷的血红素含量

Santoro Antonella, De Santis Silvia, Palmieri Ferdinando, Vozza Angelo, Agrimi Gennaro, Andolfo Immacolata, Russo Roberta, Palazzo Antonio, Storlazzi Clelia Tiziana, Ferrucci Arianna, Jun Yong Woong, Kool Eric T, Fiermonte Giuseppe, Iolascon Achille, Paradies Eleonora, Marobbio Carlo Marya Thomas, Palmieri Luigi

A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity

同卵双胞胎神经发育障碍中一种新的STAG1新生变异:临床异质性的新见解

Cipriano, Lorenzo; Russo, Roberta; Andolfo, Immacolata; Manno, Mariangela; Piscopo, Raffaele; Iolascon, Achille; Piscopo, Carmelo

First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review

首例伴有神经和精神症状的显性新生SEC23A突变病例:颅骨-豆状核-缝合线发育不良的新见解及文献综述

Minale, Elia Marco Paolo; De Falco, Alessandro; Agolini, Emanuele; Novelli, Antonio; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Piscopo, Carmelo

P1405: IN-DEPTH GENOME INTEGRITY EVALUATION AND GMP-COMPLIANT MANUFACTURING OF HDR GENE EDITED CD4+ T CELLS FOR THE TREATMENT OF HYPER IGM 1

P1405:用于治疗高IgM 1 型免疫球蛋白血症的 HDR 基因编辑 CD4+ T 细胞的深入基因组完整性评估和符合 GMP 标准的生产

García-López, Juan P; Grimaldi, Alexandre; Chen, Zelin; Meneses, Claudio; Bravo-Tello, Karina; Bresciani, Erica; Banderas, Alvaro; Burgess, Shawn M; Hernández, Pedro P; Feijoo, Carmen G; Maria Pinto, Valeria; Russo, Roberta; Quintino, Sabrina; Eleni Rosato, Barbara; Marra, Roberta; Del Giudice, Federica; Mogni, Massimo; Maffei, Massimo; Iolascon, Achille; Luca Forni, Gian; Andolfo, Immacolata; Canarutto, Daniele; Asperti, Claudia; Vavassori, Valentina; Porcellini, Simona; Rovelli, Elisabetta; Paulis, Marianna; Ferrari, Samuele; Plati, Tiziana; Sergi Sergi, Lucia; Villa, Anna; Radrizzani, Marina; Naldini, Luigi