Research Studies Archive

Bilateral field advantage and evoked potential interhemispheric transmission in commissurotomy and callosal agenesis

Abstract The role of the corpus callosum versus other cerebral commissures in the interhemispheric ...

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

Abstract Deletions of chromosome 1q42-q44 have been reported in a variety of developmental abnormalities of ...

Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome

Abstract Agenesis of the corpus callosum (ACC) is a common brain anomaly with a birth incidence of at least 1 ...

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies

Abstract Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. ...

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

Abstract The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a ...

Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria

Abstract Homozygous recessive mutations in the PRICKLE1 gene were originally reported in three consanguineous ...

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

Abstract Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are ...

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia

Abstract The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. ...

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans

Abstract Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice ...

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

Abstract Agenesis of the corpus callosum (AgCC) is a congenital brain malformation that occurs in ...

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

Abstract Background: The neurodevelopmental prognosis of anomalies of the corpus callosum (ACC), one of the ...
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