[HTML][HTML] RNA-Seq data analysis reveals novel nonsense mutations in the NPR3 gene leading to the progression of intellectual disability disorder

P Garg, F Jamal, P Srivastava - Heliyon, 2024 - cell.com
Intellectual disability (ID) is a progressive disorder that affects around 1–3% of the world's
population. The heterogeneity of intellectual disability makes it difficult to diagnose as a …

[HTML][HTML] Meta-analysis of RNA-seq data identifies potent biomarkers for intellectual disability disorder (IDD)

P Garg, F Jamal, P Srivastava - Biology and Life Sciences Forum, 2022 - mdpi.com
The identification of genes that are expressed differentially in the diseased versus healthy
individual give relevant information regarding the pathology of the disease. The …

[HTML][HTML] New candidates for autism/intellectual disability identified by whole-exome sequencing

LP Bruno, G Doddato, F Valentino… - International journal of …, 2021 - mdpi.com
Intellectual disability (ID) is characterized by impairments in the cognitive processes and in
the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of …

Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients

K InanlooRahatloo, F Peymani, K Kahrizi, H Najmabadi - Neuroscience, 2019 - Elsevier
A significant level of genetic heterogeneity has been demonstrated in intellectual disability
(ID). More than 700 genes have been identified in ID patients. To identify molecular …

[HTML][HTML] Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease …

H Darvish, LJ Azcona, A Tafakhori, R Mesias… - Scientific Reports, 2020 - nature.com
Intellectual disability (ID), which presents itself during childhood, belongs to a group of
neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly …

[HTML][HTML] Genome-wide investigation of an ID cohort reveals de novo 3′ UTR variants affecting gene expression

P Devanna, M Van de Vorst, R Pfundt, C Gilissen… - Human Genetics, 2018 - Springer
Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically
heterogeneous causes. Large-scale sequencing has led to the identification of many gene …

[HTML][HTML] Advances in understanding–genetic basis of intellectual disability

P Chiurazzi, F Pirozzi - F1000Research, 2016 - ncbi.nlm.nih.gov
Intellectual disability is the most common developmental disorder characterized by a
congenital limitation in intellectual functioning and adaptive behavior. It often co-occurs with …

Gene networks associated with non-syndromic intellectual disability

S Lee, S Rudd, J Gratten, PM Visscher… - Journal of …, 2018 - Taylor & Francis
Non-syndromic intellectual disability (NS-ID) is a genetically heterogeneous disorder, with
more than 200 candidate genes to date. Despite the increasing number of novel mutations …

[PDF][PDF] Exome sequencing and linkage analysis identified novel candidate genes in recessive intellectual disability associated with ataxia

R Jazayeri, H Hu, Z Fattahi, L Musante, SS Abedini… - 2015 - sid.ir
Background: Intellectual disability (ID) is a neuro-developmental disorder which causes
considerable socio-economic problems. Some ID individuals are also affected by ataxia …

IDGenetics: a comprehensive database for genes and mutations of intellectual disability related disorders

C Chen, D Chen, H Xue, X Liu, T Zhang, S Tang… - Neuroscience …, 2018 - Elsevier
Intellectual disability (ID) is one of the most prevalent chronic developmental brain disorders
or phenotype of syndromic ID, affecting nearly 1-2% of the general population worldwide …