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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept In Situ Hybridization, Fluorescence
Academic Article Recurrent 16p11.2 microdeletions in autism.
Academic Article Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article Microcephaly with simplified gyral pattern in six related children.
Academic Article Truncation of NHEJ1 in a patient with polymicrogyria.
Academic Article Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Academic Article Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Academic Article Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Academic Article A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Academic Article Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Academic Article Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
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  • In Situ Hybridization Fluorescence