De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

doi:10.1038/gim.2017.83

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

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2018

Zarrei Mehdi, Fehlings Darcy L, Mawjee Karizma, Switzer Lauren, Thiruvahindrapuram Bhooma, Walker Susan, Merico Daniele, Casallo Guillermo, Uddin Mohammed, MacDonald Jeffrey R, Gazzellone Matthew J, Higginbotham Edward J, Campbell Craig, deVeber Gabrielle, Frid Pam, Gorter Jan Willem, Hunt Carolyn, Kawamura Anne, Kim Marie, McCormick Anna, Mesterman Ronit, Samdup Dawa, Marshall Christian R, Stavropoulos Dimitri J, Wintle Richard F, Scherer Stephen W

Abstract excerpt

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and...

Read the complete abstract on PubMed

Topics

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

Share to Cerebral Palsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Aberrations

Share to Cross-Sectional Studies

Share to DNA Copy Number Variations

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Hemiplegia

Share to Neuroimaging

Source

Open in PubMed Open full text

Identifiers

PMID: 28771244
DOI: 10.1038/gim.2017.83
PMCID: PMC5846809

Genes

DMD
GRIK2
LAMA1
PTPRM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.PMID 28771244Read ↗

Insights From Genetic Studies of Cerebral PalsySemantic proximity Read ↗

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

Copy number variations in cryptogenic cerebral palsySemantic proximity Read ↗

Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.Semantic proximity Read ↗

Systematic Review on Genetic Variants in Children With Cerebral Palsy.Semantic proximity Read ↗

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.Semantic proximity Read ↗

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencingSemantic proximity Read ↗

The emerging genetic landscape of cerebral palsy.Semantic proximity Read ↗

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.Semantic proximity Read ↗

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.Semantic proximity Read ↗

Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.Semantic proximity Read ↗

Potential clinical applications of advanced genomic analysis in cerebral palsy.Semantic proximity Read ↗

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