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

Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.

BMC research notes - 22 Jul 2014

Shimojima Keiko, Narita Aya, Maegaki Yoshihiro, Saito Akira, Furukawa Toru, Yamamoto Toshiyuki

Abstract excerpt

BACKGROUND: Owing to the number of genetic mutations that contribute to malformations of cortical development, identification of causative mutations in candidate genes is challenging. To overcome these challenges, we performed whole-exome sequencing in this study. CASE PRESENTATION: A Japanese patient presented with microcephaly and severe developmental delay. Brain magnetic resonance imaging showed the presence...

Read the complete abstract on PubMed

Topics

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

Share to Agenesis of Corpus Callosum
Share to Brain Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellum

Share to Developmental Disabilities

Share to Lateral Ventricles

Share to Microcephaly

Share to Nervous System Malformations

Share to Tubulin

Source

Open in PubMed Open full text

Identifiers

PMID: 25053001
DOI: 10.1186/1756-0500-7-465
PMCID: PMC4118784

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

Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.PMID 25053001Read ↗

A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.Semantic proximity Read ↗

Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.Semantic proximity Read ↗

The mutational and phenotypic spectrum of <i>TUBA1A</i> -associated tubulinopathySemantic proximity Read ↗

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.Semantic proximity Read ↗

Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.Semantic proximity Read ↗

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.Semantic proximity Read ↗

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.Semantic proximity Read ↗

Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Semantic proximity Read ↗

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.Semantic proximity Read ↗

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.Semantic proximity Read ↗

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.Semantic proximity Read ↗

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.Semantic proximity Read ↗

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