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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Chromosomes, Human, Pair 17
Academic Article "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article Clinical and molecular diagnosis of Miller-Dieker syndrome.
Academic Article Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
Academic Article Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
Academic Article Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
Academic Article Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Academic Article Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
Academic Article Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Academic Article Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
Academic Article The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Academic Article Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
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 Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
Academic Article The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
Academic Article Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Academic Article Lissencephaly and the molecular basis of neuronal migration.
Academic Article Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Search Criteria
  • Chromosomes Human Pair 17