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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
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.
Search Criteria
Genetic Linkage