Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

doi:10.1007/s13353-013-0181-x

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

Journal of applied genetics - 1 Feb 2014

Bartnik Magdalena, Nowakowska Beata, Derwińska Katarzyna, Wiśniowiecka-Kowalnik Barbara, Kędzior Marta, Bernaciak Joanna, Ziemkiewicz Kamila, Gambin Tomasz, Sykulski Maciej, Bezniakow Natalia, Korniszewski Lech, Kutkowska-Kaźmierczak Anna, Klapecki Jakub, Szczałuba Krzysztof, Shaw Chad A, Mazurczak Tadeusz, Gambin Anna, Obersztyn Ewa, Bocian Ewa, Stankiewicz Paweł

Abstract excerpt

We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to DNA Copy Number Variations

Share to Gene Dosage

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

Share to Karyotyping

Share to Poland

Source

Open in PubMed Open full text

Identifiers

PMID: 24297458
DOI: 10.1007/s13353-013-0181-x
PMCID: PMC3909616

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.PMID 24297458Read ↗

Novel applications of array comparative genomic hybridization in molecular diagnostics.Semantic proximity Read ↗

[Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation].Semantic proximity Read ↗

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.Semantic proximity Read ↗

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?Semantic proximity Read ↗

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.Semantic proximity Read ↗

Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China.Semantic proximity Read ↗

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohortSemantic proximity Read ↗

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.Semantic proximity Read ↗

The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.Semantic proximity Read ↗

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delaySemantic proximity Read ↗

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.Semantic proximity Read ↗

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.