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GenomicsCSER: Genomic Diagnosis in Children with Developmental Delay
CSER: Genomic Diagnosis in Children with Developmental Delay
PRJNA315714 | ENA
TranscriptomicsExpression data from patients with global developmental delay and autistic features and normal controls
We analyzed the whole-genome mRNA expression profiling of cultured lymphoblastoid cell lines (LCLs) from patients (n=2), carriers (n=2), and unrelated normal controls (n=3), all performed in duplicates using Affymetrix GeneChip Human Exon 1.0 ST arrays, to identify genes and pathways that are signif...
ORGANISM(S): Homo sapiens 
2014-08-01 | E-GEOD-29691 | biostudies-arrayexpress
TranscriptomicsExpression data from LCL samples from patients with global developmental delay and autistic features and normal controls
We analyzed the whole-genome mRNA expression profiling of cultured lymphoblastoid cell lines (LCLs) from patients (n=2), carriers (n=2), and unrelated normal controls (n=3), all performed in duplicates using Affymetrix GeneChip Human Exon 1.0 ST arrays, to identify genes and pathways that are signif...
ORGANISM(S): Homo sapiens 
2014-08-01 | E-GEOD-29918 | biostudies-arrayexpress
GenomicCSER: Genomic Diagnosis in Children with Developmental Delay (CSER-HudsonAlpha)

The overarching goal of this project is to explore the ability for whole exome and genome sequencing technologies to identify the genetic causes of unexplained developmental delay, intellectual disability (DD/ID), and related congenital anomalies in children. Such information may be useful as an ...

phs001089 | dbGaP
GenomicsAffymetrix CytoScan 750K and HD data for developmental delay and/or physical disability phenotypes samples
Affymetrix CytoScan 750K and HD data for developmental delay and/or physical disability phenotypes samples
PRJNA493801 | ENA
UnknownEarly detection of developmental delay in infants born very preterm or with very low birthweight.
Not available
S-EPMC10952560 | biostudies-literature
GenomicsEctopic expression of the germline transcription factor LSL-1 contributes to developmental delay following failed maternal epigenetic reprogramming
Ectopic expression of the germline transcription factor LSL-1 contributes to developmental delay following failed maternal epigenetic reprogramming
PRJNA1519175 | ENA
GenomicsFailure to maternally reprogram histone methylation causes developmental delay due to germline transcription in somatic tissues
Failure to maternally reprogram histone methylation causes developmental delay due to germline transcription in somatic tissues
PRJNA635566 | ENA
UnknownDevelopmental delay in infants and toddlers with sickle cell disease: a systematic review.
Not available
S-EPMC10413179 | biostudies-literature
TranscriptomicsA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
Molecular cytogenetic techniques such as microarray analysis have allowed for a “genotype-first” approach to the characterization of chromosome abnormalities: in the absence of clinical features suggestive of a specific syndrome, patients with similar copy number imbalances can be examined for commo...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-21536 | biostudies-arrayexpress
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