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浏览/检索结果: 共5条，第1-5条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择发表日期升序发表日期降序提交时间升序提交时间降序题名升序题名降序作者升序作者降序 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype 期刊论文 HUMAN MUTATION, 2017, 卷号: 38, 期号: 12 作者:  Chen, Li;  Jensik, Philip J.;  Alaimo, Joseph T.;  Walkiewicz, Magdalena;  Berger, Seth 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 clinical exome sequencing (CES)  deformed epidermal autoregulatory factor-1 (DEAF1)  associated neurodevelopmental disorder (DAND)  intellectual disability (ID)  nuclear localization signal (NLS)  SAND   RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome 期刊论文 JOURNAL OF PEDIATRIC GENETICS, 2017, 卷号: 6, 期号: 3 作者:  Mullegama, Sureni V.;  Alaimo, Joseph T.;  Fountain, Michael D.;  Burns, Brooke;  Balog, Amanda Hebert 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 Potocki-Lupski syndrome  RAI1  circadian rhythm  sleep disturbance   Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes 期刊论文 CLINICAL CASE REPORTS, 2017, 卷号: 5, 期号: 6 作者:  Mullegama, Sureni V.;  Jensik, Phillip;  Li, Chen;  Dorrani, Naghmeh;  Kantarci, Sibel 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 Clinical exome sequencing  DEAF1  familial Mediterranean fever  MED13L  MED13L haploinsufficiency syndrome  MEFV   Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder 期刊论文 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2015, 卷号: 16, 期号: 4 作者:  Mullegama, Sureni V.;  Alaimo, Joseph T.;  Chen, Li;  Elsea, Sarah H. 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/19 MBD5  ASD  networks  overlapping phenotypes  UBE3A  TCF4  MEF2C  EHMT1  RAI1  transcriptional regulation  pathways  network analysis   Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 期刊论文 AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 卷号: 89, 期号: 4 作者:  Talkowski, Michael E.;  Mullegama, Sureni V.;  Rosenfeld, Jill A.;  van Bon, W. M.;  Shen, Yiping 收藏  |  浏览/下载：20/0  |  提交时间：2019/12/19