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

Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins

转录组和表观基因组范围内的关联研究:同卵双胞胎中抽动症谱系障碍的差异

Dalsberg, Jonas; Jespersgaard, Cathrine; Levy, Amanda M; Asplund, Anna Maria; Bagger, Frederik Otzen; Debes, Nanette M; Tan, Qihua; Tümer, Zeynep; Hildonen, Mathis

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

ZNF142基因的双等位基因功能缺失变异与影响有限数量基因组位点的强效DNA甲基化特征相关。

Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling

利用无假设DNA甲基化谱分析法,在延误66年后诊断出安格曼综合征

Hildonen, Mathis; Ferilli, Marco; Krey, Ilona; Kohnen, Oona; Cappelletti, Camilla; Platzer, Konrad; Ciolfi, Andrea; Jamra, Rami Abou; Tartaglia, Marco; Tümer, Zeynep

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

歌舞伎综合征的DNA甲基化谱分析:生殖系KMT2D VUS的重新分类及验证合子后嵌合体的敏感性

Niceta, Marcello; Ciolfi, Andrea; Ferilli, Marco; Pedace, Lucia; Cappelletti, Camilla; Nardini, Claudia; Hildonen, Mathis; Chiriatti, Luigi; Miele, Evelina; Dentici, Maria Lisa; Gnazzo, Maria; Cesario, Claudia; Pisaneschi, Elisa; Baban, Anwar; Novelli, Antonio; Maitz, Silvia; Selicorni, Angelo; Squeo, Gabriella Maria; Merla, Giuseppe; Dallapiccola, Bruno; Tumer, Zeynep; Digilio, Maria Cristina; Priolo, Manuela; Tartaglia, Marco

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

生殖系(表观)遗传学揭示女性具有较高的易感性:一项为期5年的全国性前瞻性肾母细胞瘤队列研究

Stoltze, Ulrik Kristoffer; Hildonen, Mathis; Hansen, Thomas Van Overeem; Foss-Skiftesvik, Jon; Byrjalsen, Anna; Lundsgaard, Malene; Pignata, Laura; Grønskov, Karen; Tumer, Zeynep; Schmiegelow, Kjeld; Brok, Jesper Sune; Wadt, Karin A W

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

线粒体功能障碍与 FOXG1 综合征的关系

Victoria A Bjerregaard, Amanda M Levy, Mille S Batz, Ravina Salehi, Mathis Hildonen, Trine B Hammer, Rikke S Møller, Claus Desler, Zeynep Tümer

Antiviral Immunoglobulins of Chicken Egg Yolk for Potential Prevention of SARS-CoV-2 Infection

鸡蛋黄中的抗病毒免疫球蛋白可有效预防 SARS-CoV-2 感染

Erlend Ravlo, Lasse Evensen, Gorm Sanson, Siri Hildonen, Aleksandr Ianevski, Per Olav Skjervold, Ping Ji, Wei Wang, Mari Kaarbø, Gerda Dominyka Kaynova, Denis E Kainov, Magnar Bjørås

High sugar content of European commercial baby foods and proposed updates to existing recommendations

欧洲市售婴儿食品含糖量高,以及对现有建议的更新建议

Hutchinson, Jayne; Rippin, Holly; Threapleton, Diane; Jewell, Jo; Kanamäe, Haidi; Salupuu, Kristin; Caroli, Margherita; Antignani, Angelo; Pace, Lucienne; Vassallo, Charlene; Lande, Britt; Hildonen, Christina; Rito, Ana Isabel; Santos, Mariana; Gabrijelcic Blenkus, Mojca; Sarkadi-Nagy, Eszter; Erdei, Gergő; Cade, Janet E; Breda, Joao

Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome

吉尔斯·德·拉·图雷特综合征中编码血清素转运体 (SERT) 的 SLC6A4 表达升高

Mathis Hildonen, Amanda M Levy, Christina Dahl, Victoria A Bjerregaard, Lisbeth Birk Møller, Per Guldberg, Nanette M Debes, Zeynep Tümer

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

型强直性肌营养不良症患者 DMPK CTG 重复序列两侧 CpG 位点的纵向甲基化水平稳定

Mathis Hildonen, Kirsten Lykke Knak, Morten Dunø, John Vissing, Zeynep Tümer