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

Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study

唐氏综合征婴儿阻塞性睡眠呼吸暂停的早期检测和治疗：一项前瞻性、非随机、对照、干预性研究

期刊:Lancet Regional Health-Europe
影响因子:13
doi:10.1016/j.lanepe.2024.101035
Fauroux, Brigitte; Sacco, Silvia; Couloigner, Vincent; Amaddeo, Alessandro; Ravel, Aimé; Prioux, Emmanuelle; Toulas, Jeanne; Cieuta-Walti, Cécile; Walti, Hervé; Luscan, Romain; Falquero, Ségolène; Clert, Manon; Caillaud, Marie-Anne; De Sanctis, Livio; Khirani, Sonia; Marey, Isabelle; Mircher, Clotilde
发表日期：2024
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Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c+ B cells

唐氏综合征通过细胞因子、CD4 T 细胞和 CD11c+ B 细胞引起自身免疫

期刊:Nature
影响因子:50.5
doi:10.1038/s41586-023-05736-y
Louise Malle, Roosheel S Patel, Marta Martin-Fernandez #, O Jay Stewart #, Quentin Philippot, Sofija Buta, Ashley Richardson, Vanessa Barcessat, Justin Taft, Paul Bastard, Julie Samuels, Clotilde Mircher, Anne-Sophie Rebillat, Louise Maillebouis, Marie Vilaire-Meunier, Kevin Tuballes, Brad R Rosenbe
细胞生物学
B细胞
T细胞
发表日期：2023
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Down syndrome regression disorder, a case series: Clinical characterization and therapeutic approaches

唐氏综合征倒退症病例系列：临床特征和治疗方法

期刊:Frontiers in Neuroscience
影响因子:3.2
doi:10.3389/fnins.2023.1126973
Bonne, Sidney; Iftimovici, Anton; Mircher, Clotilde; Conte, Martine; Louveau, Cécile; Legrand, Adrien; Danset-Alexandre, Charlotte; Cannarsa, Costanza; Debril, Alexis; Consoli, Angèle; Krebs, Marie-Odile; Ellul, Pierre; Chaumette, Boris
发表日期：2023
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Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease

Chr21 蛋白质-蛋白质相互作用：与智力障碍、自闭症和晚发性阿尔茨海默病有关的蛋白质的富集

期刊:Life Science Alliance
影响因子:3.3
doi:10.26508/lsa.202101205
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, J
神经
自闭症
阿尔茨海默症
发表日期：2022
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Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study

唐氏综合征成人患者血浆神经丝轻链浓度的诊断和预后性能及纵向变化：一项队列研究

期刊:Lancet Neurology
影响因子:45.5
doi:10.1016/S1474-4422(21)00129-0
Carmona-Iragui, Maria; Alcolea, Daniel; Barroeta, Isabel; Videla, Laura; Muñoz, Laia; Van Pelt, Kathyrn L; Schmitt, Frederick A; Lightner, Donita D; Koehl, Lisa M; Jicha, Gregory; Sacco, Silvia; Mircher, Clotilde; Pape, Sarah E; Hithersay, Rosalyn; Clare, Isabel C H; Holland, Anthony J; Nübling, Georg; Levin, Johannes; Zaman, Shahid H; Strydom, Andre; Rebillat, Anne-Sophie; Head, Elizabeth; Blesa, Rafael; Lleó, Alberto; Fortea, Juan
发表日期：2021
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Deciphering the links between psychological stress, depression, and neurocognitive decline in patients with Down syndrome

揭示唐氏综合征患者心理压力、抑郁和神经认知衰退之间的联系

期刊:Neurobiology of Stress
影响因子:3.6
doi:10.1016/j.ynstr.2021.100305
Poumeaud, François; Mircher, Clotilde; Smith, Peter J; Faye, Pierre-Antoine; Sturtz, Franck G
神经科学
发表日期：2021
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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

四种干扰素受体基因的三个拷贝是唐氏综合症轻度 I 型干扰素病的基础

期刊:Journal of Clinical Immunology
影响因子:7.2
doi:10.1007/s10875-020-00803-9
Xiao-Fei Kong, Lisa Worley, Darawan Rinchai, Vincent Bondet, Puthen Veettil Jithesh, Marie Goulet, Emilie Nonnotte, Anne Sophie Rebillat, Martine Conte, Clotilde Mircher, Nicolas Gürtler, Luyan Liu, Mélanie Migaud, Mohammed Elanbari, Tanwir Habib, Cindy S Ma, Jacinta Bustamante, Laurent Abel, Aimé R
信号转导
发表日期：2020
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Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer

对患有21三体综合征女性的转录组学研究发现，免疫相关蛋白GTP酶（GIMAP）可能在乳腺癌保护中发挥作用

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-020-66469-w
Mégarbané, André; Piquemal, David; Rebillat, Anne-Sophie; Stora, Samantha; Pierrat, Fabien; Bruno, Roman; Noguier, Florian; Mircher, Clotilde; Ravel, Aimé; Vilaire-Meunier, Marie; Durand, Sophie; Lefranc, Gérard
肿瘤免疫
肿瘤
乳腺癌
免疫/内分泌
发表日期：2020
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Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation

21三体综合征的甲基化组学分析揭示了与认知和阿尔茨海默病相关的失调

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-019-0787-x
Haertle, Larissa; Müller, Tobias; Lardenoije, Roy; Maierhofer, Anna; Dittrich, Marcus; Riemens, Renzo J M; Stora, Samantha; Roche, Mathilde; Leber, Markus; Riedel-Heller, Steffi; Wagner, Michael; Scherer, Martin; Ravel, Aimé; Mircher, Clotilde; Cieuta-Walti, Cecile; Durand, Sophie; van de Hove, Daniel L A; Hoffmann, Per; Ramirez, Alfredo; Haaf, Thomas; El Hajj, Nady; Mégarbané, André
阿尔茨海默症
表观遗传
神经科学
发表日期：2019
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The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

21三体综合征的智力障碍：低智商和高智商患者病例系列中基因表达的差异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2013.24
Mégarbané, André; Noguier, Florian; Stora, Samantha; Manchon, Laurent; Mircher, Clotilde; Bruno, Roman; Dorison, Nathalie; Pierrat, Fabien; Rethoré, Marie-Odile; Trentin, Bernadette; Ravel, Aimé; Morent, Marine; Lefranc, Gerard; Piquemal, David
发表日期：2013
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