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

Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype

7号染色体母系单亲二体性:7号染色体编码的印记基因如何导致Silver-Russell表型

Begemann, Matthias; Lengyel, Anna; Pinti, Eva; Kovács, Árpád Ferenc; Fekete, György; Stratmann, Svea; Krause, Jeremias; Elbracht, Miriam; Kraft, Florian; Eggermann, Thomas

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome

在携带致病性PLAG1变异的患者中,MEG8:Int2-DMR的低甲基化提示14q32染色体印记簇在Silver-Russell综合征中发挥新的作用。

D'Angelo, Emilia; Pignata, Laura; Cecere, Francesco; Vimercati, Alessandro; Cubellis, Maria Vittoria; Saadat, Abu; Giaccari, Carlo; Thibaud, Nathalie; Eggermann, Thomas; Fernández-Fructuoso, Jose Ramon; Russo, Silvia; Netchine, Irène; Cerrato, Flavia; Riccio, Andrea; Brioude, Frédéric

EndoCompass Project: Research Roadmap for Growth Disorders

EndoCompass项目:生长障碍研究路线图

Gevers, Evelien F; Hokken-Koelega, Anita C; Tauber, Maithe; Binder, Gerhard; Bochukova, Elena G; Bouret, Sebastien G; Caixàs, Assumpta; Davies, Justin H; Dauber, Andrew; Edouard, Thomas; Eggermann, Thomas; Giabicani, Eloise; Netchine, Irène; Nilsson, Ola; Saravinovska, Kristina; van der Steen, Manouk; Tartaglia, Marco; Tatton-Brown, Katrina; Temple, I Karen; Yart, Armelle; Zenker, Martin

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study

基因组测序在具有 11p15.5 印记障碍特征的患者中的诊断应用:一项初步研究

Kessler, Luise; Krause, Jeremias; Kraft, Florian; Amin, Asmaa K; Fekete, Gyorgy; Lengyel, Anna; Pinti, Eva; Kovacs, Arpad; Lischka, Annette; Eggermann, Katja; Kurth, Ingo; Knopp, Cordula; Elbracht, Miriam; Begemann, Matthias; Eggermann, Thomas

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism

先天性高胰岛素血症患者的临床决策综合基因检测

Begemann, Matthias; Boy, Johannes Alexander Tobias; Kraft, Florian; Vossschulte, Hendrik; Barthlen, Winfried; Kummer, Sebastian; Orlikowsky, Thorsten; Torosoglu, Adrin; Eggermann, Thomas; Kurth, Ingo; Elbracht, Miriam; Pappa, Angeliki

Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies

先天性印记疾病:病因、产前和围产期表现、诊断以及对受影响家庭和妊娠的护理

Eggermann, Thomas; Kagan, Karl Oliver; Dufke, Andreas

Brain malformations and seizures by impaired chaperonin function of TRiC

TRiC分子伴侣功能受损导致脑畸形和癫痫发作

Kraft, Florian; Rodriguez-Aliaga, Piere; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A Micheil; Zheng, Bixia; Julia Suh, Dong Sun; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiaomeng; Trapane, Pamela; Carroll, Riley; McClatchey, Martin; Fry, Andrew E; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine A; de Sainte Agathe, Jean-Madeleine; Charles, Perrine; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J; Maier, Andrea; Wolking, Stefan; Weber, Yvonne; Lochmüller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gael; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine N; Monaghan, Kristin G; Quade, Annegret; Smol, Thomas; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije; Jansen, Anna C; Rosenblum, Jessica; Haack, Tobias B; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Jörg B; Wagner, Norbert; Wiesmann, Martin; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Häusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen C; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo

Automatized detection of uniparental disomies in a large cohort

在大规模队列中自动检测单亲二体

Moch, Johanna; Radtke, Maximilian; Liehr, Thomas; Eggermann, Thomas; Gilissen, Christian; Pfundt, Rolph; Astuti, Galuh; Hentschel, Julia; Schumann, Isabell

CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants

CNVizard——一款轻量级的Streamlit应用程序,用于交互式分析拷贝数变异。

Krause, Jeremias; Classen, Carlos; Dey, Daniela; Lausberg, Eva; Kessler, Luise; Eggermann, Thomas; Kurth, Ingo; Begemann, Matthias; Kraft, Florian

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

人类过度生长的分子机制及其组学诊断应用:机遇与挑战

Prawitt, Dirk; Eggermann, Thomas