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

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report

8q21.11微缺失综合征的产前诊断及基因型-表型相关性：病例报告

期刊:International Medical Case Reports Journal
影响因子:0.6
doi:10.2147/IMCRJ.S542044
Libotte, Francesco; Margiotti, Katia; Fabiani, Marco; Mesoraca, Alvaro; Giorlandino, Claudio
发表日期：2026
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Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis

对患有室间隔缺损和肺动脉狭窄的家族中一种新的 GATA4 错义变异 p.Gly303Trp 的特征分析

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26104931
Fabiani, Marco; Zangheri, Costanza; Cima, Antonella; Monaco, Francesca; Ali', Chiara; Barone, Maria Antonietta; Viola, Antonella; Mesoraca, Alvaro; Margiotti, Katia; Giorlandino, Claudio
GATA
发表日期：2025
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Neurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant

与TRIP12相关的神经发育表型：携带p.Asp1135Val变异的家族报告

期刊:Genes
影响因子:2.8
doi:10.3390/genes16121456
Margiotti, Katia; Fabiani, Marco; Cima, Antonella; Monaco, Francesca; Viola, Antonella; Mesoraca, Alvaro; Giorlandino, Claudio
发育与干细胞
RIP
神经科学
发表日期：2025
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Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)

植入前结构重排遗传检测 (PGT-SR) 后胚胎的单亲二体 (UPD) 排除

期刊:Journal of Assisted Reproduction and Genetics
影响因子:2.7
doi:10.1007/s10815-024-03352-x
Fabiani, Marco; Margiotti, Katia; Libotte, Francesco; Alì, Chiara; Zangheri, Costanza; Barone, Maria Antonietta; Viola, Antonella; Cima, Antonella; Buonomo, Giovanna; Cristofano, Danilo; Lippa, Assunta; Pasquale, Chiara; Montanino Oliva, Mario; Mesoraca, Alvaro; Giorlandino, Claudio
发表日期：2025
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Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder

母体叶酸受体α自身抗体和胎儿颈项透明层增厚作为自闭症谱系障碍的潜在早期标志物

期刊:Brain and Behavior
影响因子:2.7
doi:10.1002/brb3.71088
Giorlandino, Claudio; Margiotti, Katia; Fabiani, Marco; Mesoraca, Alvaro; D'Emidio, Laura; Raffio, Raffaella; Coco, Claudio; Mastrandrea, Maria Luisa; Pasquale, Chiara; Cupellaro, Marina; Giorlandino, Francesca; Pignataro, Francesco; Milite, Vincenzo
信号转导
自闭症
神经科学
免疫/内分泌
发表日期：2025
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Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies

与骨骼纤毛病相关的IFT140基因复合杂合变异

期刊:Diagnostics
影响因子:3.3
doi:10.3390/diagnostics14222601
Margiotti, Katia; Fabiani, Marco; Cima, Antonella; Viola, Antonella; Monaco, Francesca; Alì, Chiara; Zangheri, Costanza; Abramo, Carmela; Coco, Claudio; Mesoraca, Alvaro; Giorlandino, Claudio
发表日期：2024
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Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience

三重临床外显子组测序在产前诊断中的应用：单中心经验

期刊:Current Issues in Molecular Biology
影响因子:3
doi:10.3390/cimb46040201
Margiotti, Katia; Fabiani, Marco; Cima, Antonella; Libotte, Francesco; Mesoraca, Alvaro; Giorlandino, Claudio
发表日期：2024
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Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants

携带DHX37和MAMLD1变异的患者性别发育差异的双基因起源

期刊:Case Reports in Pediatrics
影响因子:0.5
doi:10.1155/2024/4896940
Margiotti, Katia; Libotte, Francesco; Fabiani, Marco; Mesoraca, Alvaro; Giorlandino, Claudio
发育与干细胞
发表日期：2024
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De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

一例胎儿胼胝体发育不良和脑室扩大：一例新发3q13.13q21.2间质缺失和父源12p13.3微缺失病例报告

期刊:
影响因子:
doi:10.3892/etm.2023.11799
Libotte, Francesco; Fabiani, Marco; Margiotti, Katia; Carpineto, Lorena Sonia; Monaco, Francesca; Raffio, Raffaella; Mesoraca, Alvaro; Giorlandino, Claudio
发育与干细胞
神经科学
发表日期：2023
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Non-Alcoholic Steatohepatitis (NASH) and Organokines: What Is Now and What Will Be in the Future

非酒精性脂肪性肝炎（NASH）与细胞因子：现状与未来展望

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms23010498
Santos, João Paulo Margiotti Dos; Maio, Mariana Canevari de; Lemes, Monike Alves; Laurindo, Lucas Fornari; Haber, Jesselina Francisco Dos Santos; Bechara, Marcelo Dib; Prado, Pedro Sidnei do Jr; Rauen, Eduardo Costa; Costa, Fernando; Pereira, Barbara Cristina de Abreu; Flato, Uri Adrian Prync; Goulart, Ricardo de Alvares; Chagas, Eduardo Federighi Baisi; Barbalho, Sandra Maria
细胞生物学
肝炎
免疫/内分泌
发表日期：2022
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