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

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

BCOR(CRX/OTX2 的共抑制因子)的突变与早发性视网膜变性相关。

Maéva Langouët,Christine Jolicoeur,Awais Javed,Pierre Mattar,Micah D Gearhart,Stephen P Daiger,Mette Bertelsen,Lisbeth Tranebjærg,Nanna D Rendtorff,Karen Grønskov,Catherine Jespersgaard,Rui Chen,Zixi Sun,Hui Li,Najmeh Alirezaie,Jacek Majewski,Vivian J Bardwell,Ruifang Sui,Robert K Koenekoop,Michel Cayouette

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

锥杆营养不良症和轴后性多指畸形家族中 RAB28 的错义突变阻止 RAB28 定位至初级纤毛

Cathrine Jespersgaard, Amalie Brunbjerg Hey, Tomas Ilginis, Tina Duelund Hjortshøj, Mingyan Fang, Mette Bertelsen, Niels Bech, Hanne Jensen, Lasse Jonsgaard Larsen, Zeynep Tümer, Thomas Rosenberg, Karen Brøndum-Nielsen, Lisbeth Birk Møller, Karen Grønskov

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

MERTK基因的双等位致病变异(包括缺失)与早发性进行性视网膜色素变性相关。

Jespersgaard, Cathrine; Bertelsen, Mette; Arif, Farah; Gellert-Kristensen, Helene Gry; Fang, Mingyan; Jensen, Hanne; Rosenberg, Thomas; Tümer, Zeynep; Møller, Lisbeth Birk; Brøndum-Nielsen, Karen; Grønskov, Karen

TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

TS-EUROTRAIN:欧洲范围内的图雷特综合征病因和病理生理学调查与培训网络

Forde, Natalie J; Kanaan, Ahmad S; Widomska, Joanna; Padmanabhuni, Shanmukha S; Nespoli, Ester; Alexander, John; Rodriguez Arranz, Juan I; Fan, Siyan; Houssari, Rayan; Nawaz, Muhammad S; Rizzo, Francesca; Pagliaroli, Luca; Zilhäo, Nuno R; Aranyi, Tamas; Barta, Csaba; Boeckers, Tobias M; Boomsma, Dorret I; Buisman, Wim R; Buitelaar, Jan K; Cath, Danielle; Dietrich, Andrea; Driessen, Nicole; Drineas, Petros; Dunlap, Michelle; Gerasch, Sarah; Glennon, Jeffrey; Hengerer, Bastian; van den Heuvel, Odile A; Jespersgaard, Cathrine; Möller, Harald E; Müller-Vahl, Kirsten R; Openneer, Thaïra J C; Poelmans, Geert; Pouwels, Petra J W; Scharf, Jeremiah M; Stefansson, Hreinn; Tümer, Zeynep; Veltman, Dick J; van der Werf, Ysbrand D; Hoekstra, Pieter J; Ludolph, Andrea; Paschou, Peristera

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

一名患者因新生不平衡的t(12;21)易位导致近端21q缺失,并伴有面部畸形、肝肿大、心肌增厚和精神运动发育迟缓。

Jespersgaard, Cathrine; Damgaard, Ida N; Cornelius, Nanna; Bache, Iben; Knabe, Niels; Miranda, Maria J; Tümer, Zeynep

A novel B-domain O-glycoPEGylated FVIII (N8-GP) demonstrates full efficacy and prolonged effect in hemophilic mice models

新型 B 结构域 O-糖基聚乙二醇化 FVIII (N8-GP) 在嗜血病小鼠模型中表现出完全疗效和长期作用

Henning R Stennicke, Marianne Kjalke, Ditte M Karpf, Kristoffer W Balling, Peter B Johansen, Torben Elm, Kristine Øvlisen, Flemming Möller, Heidi L Holmberg, Charlotte N Gudme, Egon Persson, Ida Hilden, Hermann Pelzer, Henrik Rahbek-Nielsen, Christina Jespersgaard, Are Bogsnes, Anette A Pedersen, An

Long QT syndrome in South Africa: the results of comprehensive genetic screening

南非长QT间期综合征:综合基因筛查结果

Hedley, Paula L; Durrheim, Glenda A; Hendricks, Firzana; Goosen, Althea; Jespersgaard, Cathrine; Støvring, Birgitte; Pham, Tam T; Christiansen, Michael; Brink, Paul A; Corfield, Valerie A

Genome-wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases

全基因组外周血白细胞DNA甲基化微阵列分析发现,其与炎症性肠病存在单一关联。

Harris, R Alan; Nagy-Szakal, Dorottya; Pedersen, Natalia; Opekun, Antone; Bronsky, Jiri; Munkholm, Pia; Jespersgaard, Cathrine; Andersen, PaalSkytt; Melegh, Bela; Ferry, George; Jess, Tine; Kellermayer, Richard

Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis

遗传性血色素沉着症(HFE)基因型与心力衰竭的关系:与病因和预后的关系

Møller, Daniel V; Pecini, Redi; Gustafsson, Finn; Hassager, Christian; Hedley, Paula; Jespersgaard, Cathrine; Torp-Pedersen, Christian; Christiansen, Michael; Køber, Lars V