Discover Community Create You

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

Article

High resolution chromosomal microarray in undiagnosed neurological disorders.

Journal of paediatrics and child health - 1 Sept 2013

Howell Katherine B, Kornberg Andrew J, Harvey A Simon, Ryan Monique M, Mackay Mark T, Freeman Jeremy L, Rodriguez Casero M Victoria, Collins Kevin J, Hayman Michael, Mohamed Ahmad, Ware Tyson L, Clark Damian, Bruno Damien L, Burgess Trent, Slater Howard, McGillivray George, Leventer Richard J

Abstract excerpt

AIM: Despite advances in medical investigation, many children with neurological conditions remain without a diagnosis, although a genetic aetiology is often suspected. Chromosomal microarray (CMA) screens for copy number variants (CNVs) and long continuous stretches of homozygosity (LCSH) and may further enhance diagnostic yield. Although recent studies have identified pathogenic CNVs in intellectual disability,...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Homozygote

Share to Infant

Share to Infant, Newborn

Share to Nervous System Diseases

Share to Oligonucleotide Array Sequence Analysis

Source

Identifiers

PMID: 23731025
DOI: 10.1111/jpc.12256

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

High resolution chromosomal microarray in undiagnosed neurological disorders.PMID 23731025Read ↗

Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital AnomaliesSemantic proximity Read ↗

Pathogenic or not? Assessing the clinical relevance of copy number variants.Semantic proximity Read ↗

Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies.Semantic proximity Read ↗

Clinically relevant copy number variations detected in cerebral palsy.Semantic proximity Read ↗

Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical InvestigationSemantic proximity Read ↗

Genomic Landscape and Diagnostic Yield of Chromosomal Microarray Analysis in 471 Turkish Children with Neurodevelopmental Disorders and Congenital AnomaliesSemantic proximity Read ↗

Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patientsSemantic proximity Read ↗

Chromosomal Aberrations in Pediatric Patients With Moderate/Severe Developmental Delay/Intellectual Disability With Abundant Phenotypic Heterogeneities: A Single-Center Study.Semantic proximity Read ↗

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

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.Semantic proximity Read ↗

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental DisordersSemantic proximity Read ↗

Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalitiesSemantic proximity Read ↗

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