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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 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 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 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 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 Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Academic Article Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
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 Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
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 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.

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  • Genetic Linkage