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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Corneal Diseases
Concept Crossing Over, Genetic
Concept Genes, X-Linked
Concept Genetic Diseases, X-Linked
Concept Mental Retardation, X-Linked
Concept Linkage Disequilibrium
Concept Genetic Linkage
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
Academic Article Genetic links between brain development and brain evolution.
Academic Article Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Academic Article Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Academic Article AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Academic Article Microcephaly with simplified gyral pattern in six related children.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
Academic Article Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Academic Article Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Academic Article Rapid-onset dystonia-parkinsonism.
Academic Article Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Academic Article X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.
Academic Article X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Academic Article Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
Academic Article Cobblestone lissencephaly with normal eyes and muscle.
Academic Article X-linked malformations of neuronal migration.
Academic Article Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Academic Article FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Academic Article CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
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 Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Academic Article Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Academic Article Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
Academic Article The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
Academic Article Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Academic Article Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Academic Article Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
Academic Article Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
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 Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
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 Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.
Academic Article Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.
Academic Article Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Academic Article Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Grant ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Grant The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Academic Article Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Academic Article Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1.
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