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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Corpus Callosum
Concept
Agenesis of Corpus Callosum
Academic Article
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Academic Article
Identification of genomic loci contributing to agenesis of the corpus callosum.
Academic Article
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Academic Article
Absence makes the search grow longer.
Academic Article
Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence.
Academic Article
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
Academic Article
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
Academic Article
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Academic Article
Toriello-Carey syndrome: delineation and review.
Academic Article
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Academic Article
Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
Academic Article
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
Academic Article
Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.
Academic Article
MICRO syndrome: an entity distinct from COFS syndrome.
Academic Article
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Academic Article
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Academic Article
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
Academic Article
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Academic Article
Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.
Academic Article
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Academic Article
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Academic Article
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Grant
ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Search Criteria
Corpus Callosum