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Dobyns, William

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

Item Type	Name
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.
Academic Article	Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

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Microtubules