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

Developmental Syngap1 Haploinsufficiency in Medial Ganglionic Eminence-Derived Interneurons Impairs Auditory Cortex Activity, Social Behavior, and Extinction of Fear Memory

内侧神经节隆起衍生的中间神经元中发育性 Syngap1 单倍体不足会损害听觉皮层活动、社交行为和恐惧记忆的消退

Vidya Jadhav, Maria Isabel Carreno-Munoz, Pegah Chehrazi, Jacques L Michaud, Bidisha Chattopadhyaya, Graziella Di Cristo

Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction

倒置 loxP 位点重组引起的 Syngap1 破坏与海马中间神经元功能障碍有关

Abdessattar Khlaifia, Vidya Jadhav, Marc Danik, Théo Badra, Martin H Berryer, Alexandre Dionne-Laporte, Bidisha Chattopadhyaya, Graziella Di Cristo, Jean-Claude Lacaille, Jacques L Michaud

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

变异特异性效应定义了男性HNRNPH2相关神经发育障碍的表型谱。

Hans-Jürgen Kreienkamp ,Matias Wagner ,Heike Weigand ,Allyn McConkie-Rossell ,Marie McDonald ,Boris Keren ,Cyril Mignot ,Julie Gauthier ,Jean-François Soucy ,Jacques L Michaud ,Meghan Dumas ,Rosemarie Smith ,Ulrike Löbel ,Maja Hempel ,Christian Kubisch ,Jonas Denecke ,Philippe M Campeau ,Jennifer M Bain ,Davor Lessel

Ectopic expression of Irx3 and Irx5 in the paraventricular nucleus of the hypothalamus contributes to defects in Sim1 haploinsufficiency

下丘脑室旁核中 Irx3 和 Irx5 的异位表达导致 Sim1 单倍体不足

Joe Eun Son, Zhengchao Dou, Siyi Wanggou, Jade Chan, Rong Mo, Xuejun Li, Xi Huang, Kyoung-Han Kim, Jacques L Michaud, Chi-Chung Hui

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

肺特异性 FOXF1 增强子中罕见非编码 SNV 与致死性 ACDMPV 表型缓解的关联

Przemyslaw Szafranski, Qian Liu, Justyna A Karolak, Xiaofei Song, Nicole de Leeuw, Brigitte Faas, Romana Gerychova, Petr Janku, Marta Jezova, Iveta Valaskova, Kathleen A Gibbs, Lea F Surrey, Virginie Poisson, Denis Bérubé, Luc L Oligny, Jacques L Michaud, Edwina Popek, Paweł Stankiewicz

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function

GABA 能细胞中 SYNGAP1 的减少会损害抑制性突触连接、突触抑制和认知功能

Martin H Berryer, Bidisha Chattopadhyaya, Paul Xing, Ilse Riebe, Ciprian Bosoi, Nathalie Sanon, Judith Antoine-Bertrand, Maxime Lévesque, Massimo Avoli, Fadi F Hamdan, Lionel Carmant, Nathalie Lamarche-Vane, Jean-Claude Lacaille, Jacques L Michaud, Graziella Di Cristo

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

已知和候选智力障碍基因的单外显子分辨率靶向染色体微阵列分析

Tracy Tucker, Farah R Zahir, Malachi Griffith, Allen Delaney, David Chai, Erica Tsang, Emmanuelle Lemyre, Sylvia Dobrzeniecka, Marco Marra, Patrice Eydoux, Sylvie Langlois, Fadi F Hamdan, Jacques L Michaud, Jan M Friedman

SHANK1 Deletions in Males with Autism Spectrum Disorder

自闭症谱系障碍男性患者的 SHANK1 基因缺失

Daisuke Sato ,Anath C Lionel, Claire S Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O'Connor, Carolyn Russell, Irene E Drmic, Fadi F Hamdan, Jacques L Michaud, Volker Endris, Ralph Roeth, Richard Delorme, Guillaume Huguet, Marion Leboyer, Maria Rastam, Christopher Gillberg, Mark Lathrop, Dimitri J Stavropoulos, Evdokia Anagnostou, Rosanna Weksberg, Eric Fombonne, Lonnie Zwaigenbaum, Bridget A Fernandez, Wendy Roberts, Gudrun A Rappold, Christian R Marshall, Thomas Bourgeron, Peter Szatmari, Stephen W Scherer

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

使用 500 K SNP 阵列基因组杂交检测特发性智力障碍儿童的致病拷贝数变异

Jm Friedman, Shelin Adam, Laura Arbour, Linlea Armstrong, Agnes Baross, Patricia Birch, Cornelius Boerkoel, Susanna Chan, David Chai, Allen D Delaney, Stephane Flibotte, William T Gibson, Sylvie Langlois, Emmanuelle Lemyre, H Irene Li, Patrick MacLeod, Joan Mathers, Jacques L Michaud, Barbara C McGi