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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 Microtubule-Associated Proteins
Concept Microtubules
Academic Article Genetic and neuroradiological heterogeneity of double cortex syndrome.
Academic Article Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Academic Article Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
Academic Article A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
Academic Article Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
Academic Article Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Academic Article LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Academic Article Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
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 Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Academic Article Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Academic Article The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
Academic Article Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Academic Article 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Academic Article Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Academic Article Genotypically defined lissencephalies show distinct pathologies.
Academic Article A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Academic Article Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Academic Article Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Academic Article LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Academic Article Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article LIS1: from cortical malformation to essential protein of cellular dynamics.
Academic Article Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
Academic Article Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Academic Article Lissencephaly and the molecular basis of neuronal migration.
Academic Article Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Academic Article Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Academic Article Lissencephaly: Expanded imaging and clinical classification.
Academic Article MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Academic Article De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
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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  • Microtubules