A Point Mutation in the RNA Recognition Motif of CSTF2 Associated with Intellectual Disability in Humans Causes Defects in 3′ End Processing

NIAID Data Ecosystem2026-03-12 收录

"RNA3端加工"

智力障碍遗传学

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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE152977 数据链接链接失效反馈

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

创建时间：

2020-10-06

Detection and characterizing CNVs identified by tiling resolution BAC array CGH.. Homo sapiens

基因组拷贝数变异

智力障碍遗传学

In this study 405 patients with unexplained mental retardation and 89 unaffected parents were analyzed for DNA copy-number changes using a tiling-resolution genomewide microarray containing 32,447 BAC

NIAID Data Ecosystem60

Table 1_Case Report: Novel mutations in two patients with MED13L-related intellectual disability highlighting the importance of genetic counseling.xlsx

智力障碍遗传学

遗传咨询

MED13L-related intellectual disability (ID) (impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM: 616789) is a neurodevelopmental condition characte

NIAID Data Ecosystem40

Clinical and molecular features of 15 probands with intellectual disability screened with high-resolution CMA technology in Goás (Brazil).

智力障碍遗传学

临床表型关联分析

* SS = Short Stature; GDD = Global Developmental Delay; MS = Multiple Stigmas, MCA = Multiple Congential Anomalies, ALS = Autism Like Symptoms; BD = Behavior Disorders; Disturbance of brain electrica

NIAID Data Ecosystem30

Genome-Wide Copy Number Variation Analysis of Chinese Patients with Intellectual Disability

智力障碍遗传学

拷贝数变异分析

Objective: Intellectual disability (ID) is often sporadic, and its complex etiology can make clinical diagnosis difficult. The aims of this study were to detect genomic copy number variations (CNVs) i

NIAID Data Ecosystem40

Comorbidities - microcephaly, facial dysmorphia and epilepsy - increase the risk of the pathogenic CNV finding in patients with intellectual disability and autism. Comorbidities - microcephaly, facial dysmorphia and epilepsy - increase the risk of the pathogenic CNV finding in patients with intellectual disability and autism

自闭症谱系障碍遗传

智力障碍遗传学

CNV are known to be a frequent cause of the autism spectrum disorders (ASD) and intellectual disabilities (ID). However, the clinical heterogeneity of both disorders causes the diagnostic efficacy of

NIAID Data Ecosystem40

A Point Mutation in the RNA Recognition Motif of CSTF2 Associated with Intellectual Disability in Humans Causes Defects in 3′ End Processing

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