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

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

雷特综合征成年患者的表型：13 年经验的结果及对医疗保健过渡的启示

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2020-107333
Peron, Angela; Canevini, Maria Paola; Ghelma, Filippo; Arancio, Rosangela; Savini, Miriam Nella; Vignoli, Aglaia
发表日期：2022
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KMT2A: Umbrella Gene for Multiple Diseases

KMT2A：多种疾病的伞状基因

期刊:Genes
影响因子:2.8
doi:10.3390/genes13030514
Castiglioni, Silvia; Di Fede, Elisabetta; Bernardelli, Clara; Lettieri, Antonella; Parodi, Chiara; Grazioli, Paolo; Colombo, Elisa Adele; Ancona, Silvia; Milani, Donatella; Ottaviano, Emerenziana; Borghi, Elisa; Massa, Valentina; Ghelma, Filippo; Vignoli, Aglaia; Lesma, Elena; Gervasini, Cristina
KMT2A
发表日期：2022
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

扩大与 KMT2A 变异相关的表型：Wiedemann-Steiner 综合征和 Rubinstein-Taybi 综合征之间的重叠临床症状

期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-020-0679-8
Elisabetta Di Fede, Valentina Massa, Bartolomeo Augello, Gabriella Squeo, Emanuela Scarano, Anna Maria Perri, Rita Fischetto, Francesco Andrea Causio, Giuseppe Zampino, Maria Piccione, Elena Curridori, Tommaso Mazza, Stefano Castellana, Lidia Larizza, Filippo Ghelma, Elisa Adele Colombo, Maria Chiar
KMT2A
发表日期：2021
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Medical thoracoscopy treatment for pleural infections: a systematic review and meta-analysis

胸腔镜治疗胸膜感染：系统评价和荟萃分析

期刊:BMC Pulmonary Medicine
影响因子:2.8
doi:10.1186/s12890-021-01492-9
Mondoni, Michele; Saderi, Laura; Trogu, Federica; Terraneo, Silvia; Carlucci, Paolo; Ghelma, Filippo; Centanni, Stefano; Sotgiu, Giovanni
炎症/感染
发表日期：2021
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Odontogenic rhinosinusitis and sinonasal complications of dental disease or treatment: prospective validation of a classification and treatment protocol

牙源性鼻窦炎及牙科疾病或治疗引起的鼻窦并发症：分类和治疗方案的前瞻性验证

期刊:European Archives of Oto-Rhino-Laryngology
影响因子:2.2
doi:10.1007/s00405-018-5220-0
Saibene, Alberto Maria; Collurà, Fabio; Pipolo, Carlotta; Bulfamante, Antonio Mario; Lozza, Paolo; Maccari, Alberto; Arnone, Flavio; Ghelma, Filippo; Allevi, Fabiana; Biglioli, Federico; Chiapasco, Matteo; Portaleone, Sara Maria; Scotti, Alberto; Borloni, Roberto; Felisati, Giovanni
发表日期：2019
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Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

结节性硬化症患者从儿童期到成年期的医疗保健过渡

期刊:American Journal of Medical Genetics Part C-Seminars in Medical Genetics
影响因子:4.4
doi:10.1002/ajmg.c.31653
Peron, Angela; Canevini, Maria Paola; Ghelma, Filippo; Di Marco, Fabiano; Vignoli, Aglaia
发表日期：2018
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Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis

患有结节性硬化症的女性：在接受淋巴管肌瘤病基因分型研究的人群中，临床、肺功能和放射学特征之间的关系

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0155331
Di Marco, Fabiano; Terraneo, Silvia; Imeri, Gianluca; Palumbo, Giuseppina; La Briola, Francesca; Tresoldi, Silvia; Volpi, Angela; Gualandri, Lorenzo; Ghelma, Filippo; Alfano, Rosa Maria; Montanari, Emanuele; Gorio, Alfredo; Lesma, Elena; Peron, Angela; Canevini, Maria Paola; Centanni, Stefano
发表日期：2016
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The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells

TSC2 启动子甲基化是 TSC2 血管平滑肌脂肪瘤衍生的平滑肌细胞异常生长的原因

期刊:American Journal of Pathology
影响因子:4.7
doi:10.2353/ajpath.2009.080799
Elena Lesma, Silvia Maria Sirchia, Silvia Ancona, Stephana Carelli, Silvano Bosari, Filippo Ghelma, Emanuele Montanari, Anna Maria Di Giulio, Alfredo Gorio
免疫
细胞生物学
其它细胞
DNA甲基化
发表日期：2009
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