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

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.

Psychiatric genetics - 1 Dec 2019

Demily Caroline, Duwime Charlyne, Lopez Clémence, Hemimou Cherhazad, Poisson Alice, Plasse Julien, Robert Matthieu P, Dénier Charlotte, Rossi Massimiliano, Franck Nicolas, Besmond Claude, Barcia Giulia, Boddaert Nathalie, Munnich Arnold, Vaivre-Douret Laurence

Abstract excerpt

ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of autism and agenesis of the corpus callosum (10%). Little is known regarding the cognitive and motor consequences of ARID1B mutations in humans and no link has been made between corpus callosum anomalies and visuospatial and neuromotor dysfunctions. We have investigated the visuospatial and neuromotor...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder
Share to Corpus Callosum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hand Deformities, Congenital

Share to Micrognathism

Share to Neuromuscular Diseases

Share to Visual Perception

Source

Identifiers

PMID: 30933046
DOI: 10.1097/YPG.0000000000000225

Genes

ARID1B

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

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.PMID 30933046Read ↗

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.Semantic proximity Read ↗

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.Semantic proximity Read ↗

Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.Semantic proximity Read ↗

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.Semantic proximity Read ↗

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.Semantic proximity Read ↗

Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal NeuronsSemantic proximity Read ↗

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.Semantic proximity Read ↗

Structural brain abnormalities in 12 persons with aniridiaSemantic proximity Read ↗

Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles.Semantic proximity Read ↗

Cognitive functioning in humans with mutations of the PAX6 gene.Semantic proximity Read ↗

Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.Semantic proximity Read ↗

Quantitative MR image analysis in subjects with defects in the PAX6 gene.Semantic proximity Read ↗

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