494 research outputs found
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
No full textThe clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12?362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12?362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs
Chromosome Abnormalities and Genetic Counseling
No full text4th ed.This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents.Edited by R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shafferhttp://nla.gov.au/anbd.bib-an4671493
Data for: NanoFlow Sheath Voltage Free Interfacing of Capillary Electrophoresis and Mass Spectrometry
No full textThese data are related to the following publication:Yousef S. Elshamy, Timothy G. Strein, Lisa A. Holland, Chong Li, Anthony DeBastiani, Stephen J. Valentine, Peng Li, John A. Lucas, Tyler A. Shaffer, NANOFLOW SHEATH VOLTAGE-FREE INTERFACING OF CAPILLARY ELECTROPHORESIS AND MASS SPECTROMETRY FOR THE DETECTION OF SMALL MOLECULES. Analytical ChemistryTHIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE. TO VIEW A LIST OF FILES AND ACCESS THE FILES IN THIS DATASET CLICK ON THE DOI-LINK ABOV
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
No full textThe gene MEG3 is located in the imprinted human chromosomal region on 14q32. Imprinting of a structurally homologous region IGF2/H19 on 11p15 is mediated through cytosine methylation-controlled binding of the protein CTCF to target sites upstream of H19. We identified five new CTCF binding sites around the promoter of MEG3. Using an electrophoretic mobility shift assay, we showed that these sites bind CTCF in vitro. Using one of these sites, chromatin immunoprecipitation (ChIP) analysis confirmed CTCF binding in-vivo, and differential allele-specific methylation was demonstrated in seven individuals with either maternal or paternal uniparental disomy 14 (UPD14). The site was unmethylated on the maternally inherited chromosomes 14 and methylated on the paternally inherited chromosomes 14, suggesting parent-specific methylation of sequences upstream of MEG3. We speculate that this CTCF-binding region may provide a mechanism for the transcriptional regulation of MEG3 and DLK1.Fil: Rosa, Alberto Luis. Universidad Católica de Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J.; Argentina. Washington State University; Estados UnidosFil: Wu, Yuan Qing. Baylor College of Medicine; Estados UnidosFil: Kwabi Addo, Bernard. Baylor College of Medicine; Estados UnidosFil: Coveler, Karen J.. Baylor College of Medicine; Estados UnidosFil: Sutton, V. Reid. Baylor College of Medicine; Estados UnidosFil: Shaffer, Lisa G.. Washington State University; Estados Unido
THE SPARTAN SCHOOL OF INSTITUTIONAL ECONOMICS AT MICHIGAN STATE UNIVERSITY
No full textHeterodox scholarship at Michigan State University (MSU) was influenced by the institutional economics of John R. Commons at Wisconsin. But it was far from monolithic and had many other sources and originality of its own. A case can be made that the center of institutional economics moved across Lake Michigan from Madison to East Lansing and blossomed in the second half of the 20th century with such Wisconsin Ph.D's as Raleigh Barlowe, Warren Samuels, Allan Schmid, Harry Trebing, and others. Equally important in making MSU a center of institutional economics were scholars from other institutional backgrounds such as Paul Strassmann, economic development; Robert Solo, science and technology; James Shaffer, agricultural marketing and consumer behavior; Nicholas Mercuro, law and economics; and others.Institutional and Behavioral Economics,
Carbon nanotube grafted silica fibres: Characterising the interface at the single fibre level
No full text26/09/12 meb. Author version, OK to pub
Carbon nanotube grafted carbon fibres: A study of wetting and fibre fragmentation
No full text26/09/12 meb. Author version, OK to pub.Carbon nanotubes (CNTs) were grafted on IM7 carbon fibres using a chemical vapour deposition method.The overall grafting process resulted in a threefold increase of the BET surface area compared to the original primary carbon fibres (0.57 m2/g). At the same time, there was a degradation of fibre tensile strength by around 15% (depending on gauge length), due to the dissolution of iron catalyst into the carbon;
the modulus was not significantly affected. The wetting behaviour between fibres and poly(methyl
methacrylate) (PMMA) was directly quantified using contact angle measurements for drop-on-fibre systems and indicated good wettability. Single fibre fragmentation tests were conducted on hierarchical fibre/PMMA model composites, demonstrating a significant (26%) improvement of the apparent interfacial shear strength (IFSS) over the baseline composites. The result is associated with improved stress transfer between the carbon fibres and surrounding matrix, through the grafted CNT layer. The improved IFSS was found to correlate directly with a reduced contact angle between fibre and matrix
Innovations in the Early Diagnosis of Chromosomal Disorders Associated with Intellectual Disability
No full text- …
