Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Germline Variant in Ctcf Links Mental Retardation to Wilms Tumor Predisposition

ABSTRACT: Germline Variant in *Ctcf* Links Mental Retardation to Wilms Tumor Predisposition

PROVIDER: PRJNA795462 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR17485914_1.fastq.gz	Fastqsanger.gz
	SRR17485914_2.fastq.gz	Fastqsanger.gz
	SRR17485915_1.fastq.gz	Fastqsanger.gz
	SRR17485915_2.fastq.gz	Fastqsanger.gz
	SRR17485916_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 16

Similar Datasets

Germline Variant in Ctcf Links Mental Retardation to Wilms Tumor Predisposition

Project description:Germline Variant in Ctcf Links Mental Retardation to Wilms Tumor Predisposition

| PRJNA795463 | ENA

Germline Variant in Ctcf Links Mental Retardation to Wilms Tumor Predisposition

Project description:SNP arrays was combined with next generation sequencing (NGS) to identify an LOH in 16q together with an unreported CTCF missense variant in its zinc finger domain. CTCF is within 16q LOH. We found that germline heterozygous variant I446K became homozygous in the tumor due to a loss of heterozygosity rearrangement affecting the whole q arm on chromosome 16. Based on CTCF role in regulating the epigenetic architechture of the genome, our findings reveal CTCF variant I446K as a link between MRD21 and Wilms tumor predisposition.

2022-01-11 | GSE193233 | GEO

Mental Retardation Patients

Project description:Profiling the genomic profiles of mental retardation patients. 13 mental retardation patients were selected for detection of genomic aberrations.

2009-12-16 | GSE19457 | GEO

Germline Variant in *Ctcf* Links Mental Retardation to Wilms Tumor Predisposition

Project description:This SuperSeries is composed of the SubSeries listed below.

2022-01-11 | GSE193235 | GEO

Mental Retardation Patients

Project description:Profiling the genomic profiles of mental retardation patients. 13 mental retardation patients were selected for detection of genomic aberrations. Patient's DNA were hybridized against Promega control on Agilent G4426B arrays and scanned with the Agilent G2505B scanner.

2010-05-18 | E-GEOD-19457 | biostudies-arrayexpress

Genotyping data from one patient with unexplained mental retardation and a deletion in 15q13

2011-03-05 | GSE20564 | GEO

Genotyping data from one patient with unexplained mental retardation and a deletion in 15q13

Project description:Recurrent deletions on 15q13.3 have been identified as a predisposition to mental retardation, epilepsy and psychiatric disease. We report compound heterozygous deletions on 15q13.3 in one patients with severe encephalopathy and seizures. We analysed two independent patients with severe encephalopathy and seizures and found heterozygous deletions on 15q13.3 in both patients.

2011-03-05 | E-GEOD-20564 | biostudies-arrayexpress

Genotyping data from 49 patient with unexplained mental retardation

Project description:In the study we present a multicenter study in which three European diagnostic centres assessed the use of Affymetrix Mapping 500k SNP arrays for molecular karyotyping in patients with mental retardation. Each centre tested DNA from 40 patients with unexplained mental retardation together with their parents. In addition, 38 DNA samples containing known submicroscopic copy number variations (CNVs) were run for validation purposes.

2021-08-05 | GSE23557 | GEO

Genotyping data from 120 trios with unexplained mental retardation

2009-04-01 | GSE13117 | GEO

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

Project description:The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically-detectable chromosomal abnormalities are the most frequent recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis has been found to be another important cause. Array-based methods offer a practical means of performing a high-resolution survey of the entire genome for submicroscopic copy number variants. We studied 100 children with idiopathic mental retardation and their parents using the Affymetrix GeneChip® Mapping 100K Assay and found de novo duplications as small as 1.1 Mb in three cases, de novo deletions as small as 178 kb in eight cases, and unsuspected mosaic trisomy 9 in another case. This technology can detect at least twice as many potentially pathogenic de novo copy number variants as conventional cytogenetic analysis in people with mental retardation. Keywords: mental retardation, trio analysis, copy number variant, CNV, chromosome aberration, array CGH

2007-03-12 | GSE7226 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data