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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Cerebral Cortex
Academic Article Genetic and neuroradiological heterogeneity of double cortex syndrome.
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
Academic Article Epilepsy and malformations of the cerebral cortex.
Academic Article Cortical dysplasias, genetics, and epileptogenesis.
Academic Article Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Academic Article Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Academic Article Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
Academic Article Clinical manifestations and evaluation of isolated lissencephaly.
Academic Article Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Academic Article Truncation of NHEJ1 in a patient with polymicrogyria.
Academic Article Ultra-high-field MR imaging in polymicrogyria and epilepsy.
Academic Article Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
Academic Article X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Academic Article A classification scheme for malformations of cortical development.
Academic Article X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Academic Article Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
Academic Article Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Academic Article Radiologic classification of malformations of cortical development.
Academic Article Genotypically defined lissencephalies show distinct pathologies.
Academic Article A developmental and genetic classification for malformations of cortical development.
Academic Article Miller-Dieker syndrome: lissencephaly and monosomy 17p.
Academic Article Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Academic Article Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article G protein-coupled receptor-dependent development of human frontal cortex.
Academic Article Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
Academic Article Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
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 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Academic Article A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Academic Article Malformations of cortical development and epilepsy.
Academic Article Microlissencephaly: a heterogeneous malformation of cortical development.
Academic Article Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Academic Article Malformations of cortical development: clinical features and genetic causes.
Academic Article Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
Academic Article Lissencephaly and the molecular basis of neuronal migration.
Academic Article RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Academic Article X-linked malformations of cortical development.
Academic Article A developmental and genetic classification for malformations of cortical development: update 2012.
Academic Article Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article Lissencephaly: Expanded imaging and clinical classification.
Academic Article NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Academic Article Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Academic Article PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.
Academic Article Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Academic Article Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Academic Article Lissencephaly: Update on diagnostics and clinical management.
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  • Cortex Cerebral