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Search Results to William B. Dobyns

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One or more keywords matched the following items that are connected to Dobyns, William

Item TypeName
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.

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  • Corpus Callosum