Research Studies Archive

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

Abstract Objective: BCORL1, a transcriptional co-repressor, has a role in cortical migration, neuronal ...

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities

Abstract Introduction: Whole-exome sequencing (WES) has identified de novo variants in chromatin remodelling ...

Agenesis of the corpus callosum associated with narcolepsy-cataplexy

Abstract We describe a 24-year-old man with episodes of intense desire to sleep for periods ranging from 2min ...

Adaptive Functioning Development in Infants With Agenesis of the Corpus Callosum

Abstract: Background and Objectives: Agenesis of the corpus callosum (ACC) is a common congenital brain ...

Partial Agenesis and Hypoplasia of the Corpus Callosum in Idiopathic Autism

Abstract: Methods: To test the hypothesis that developmental anomalies of the corpus callosum (CC), contribute ...

Transmantle heterotopia associated with agenesis of the corpus callosum in a patient with Parkinson: A case report

Abstract: Objective: Congenital malformations of the brain that can manifest at different ages with a wide ...

Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return

Abstract: Objective: We present prenatal diagnosis of a de novo 17q25.3 microdeletion in a fetus with ...

[A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders]

Abstract: Background: DYNC1H1 encodes the heavy chain of dynein 1, a protein that plays a critical role in ...
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