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Journals and Conferences
High resolution PCR-SSOP typing methods for HLA-B identification have been established and applied to a Northern Ireland population, using large enough numbers to give dependable allele frequencies. The six systems, which operate independently of each other, are intended for use as secondary typing systems following HLA-B identification with a medium… (More)
Pure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X-linked mental retardation with fragile(X) at Xq27-28 by direct vision fetoscopy and fetal blood sampling. Both were shown to have this fragile site on the X chromosome while nine other fetal blood samples from pregnancies at risk for other X-linked… (More)
We report on a 36-year-old man with profound mental retardation, "coarse" face, and epilepsy. Recognition of the adult phenotype of the Pallister-Killian mosaic syndrome was a prerequisite to directing the cytogenetic analysis.
A child with mental retardation and multiple congenital abnormalities, including brachycephaly, an unusual facies, brachydactyly, clinodactyly and bilateral talipes valgus, was found to have a small interstitial deletion of the short arm of chromosome 17. The clinical features and cytogenetic observations are compared with those in previously reported cases.
A simple high-performance liquid chromatography method for the determination of cefovecin in small volume plasma has been developed. Following solid-phase extraction using Oasis HLB cartridges, samples were separated by reverse-phase high-performance liquid chromatography on an XBridge C8 (3.5 µm) 4.6 × 250 mm column and quantified using ultraviolet… (More)