De novo mutations in the genome organizer CTCF cause Intellectual Disability

NIAID Data Ecosystem2026-03-13 收录

致病基因突变分析

神经发育障碍遗传学

数据链接：

https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE46833 数据链接链接失效反馈

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资源简介：

This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

创建时间：

2022-06-14

Supplementary Material for: Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report

神经发育障碍遗传学

基因型-表型关联分析

Submicroscopic 10p15.3 microdeletions were previously reported to be associated with developmental delay, and the smallest region of overlap of 10p15.3 deletion including DIP2C and ZMYND11 was defined

NIAID Data Ecosystem60

16p13 aberrations predispose to autism and MR. Homo sapiens

神经发育障碍遗传学

基因组拷贝数变异

Autism and mental retardation (MR) are often associated, suggesting that these conditions are etiologically related. Recently, array-based comparative genomic hybridization (array CGH) has identified

NIAID Data Ecosystem20

Additional file 2 of ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case

神经发育障碍遗传学

小脑DNA甲基化分析

Additional file 2: Human Infinium EPIC BeadChip Array data of the ADNP cerebellum as compared to an age-matched control subject. CpG probes with an absolute β-value > 0.1 (10% methylation differenc

Figshare2024-10-25 更新20

Additional file 1 of A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome

致病基因突变分析

胸主动脉瘤遗传病因

Additional file 1: Supplementary Table 1. Genes associated with thoracic aortic aneurysm and dissection.

NIAID Data Ecosystem30

RNA sequence data of UPF3B patients

转录组学

神经发育障碍遗传学

The data set includes polyA RNA extracted from lymphoblastoid cell lines of patients (n=4) and controls (n=2). We complemented the analysis using Affymetrix Human Exon 1.0 St array using total RNA of

Research Data Australia20

De novo mutations in the genome organizer CTCF cause Intellectual Disability

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