TRY SAYING NO
- Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. van den Bogaard, Ruud; Fijen, Cees AP; Schipper, Mariëtte GJ; de Galan, Louis; Kuijper, Ed J; Mannens, Marcel MAM // European Journal of Human Genetics;Jul2000, Vol. 8 Issue 7, p513
Properdin type I deficiency is characterised by complete absence of extracellular properdin, a positive regulator of the alternative pathway of complement activation. Properdin deficiency is associated with increased susceptibility to severe meningococcal disease. We have identified the genetic...
- Pedigree tests of transmission disequilibrium. Abecasis, Gonçalo R; Cookson, William OC; Cardon, Lon R // European Journal of Human Genetics;Jul2000, Vol. 8 Issue 7, p545
High-resolution mapping is essential for the positional cloning of complex disease genes. In outbred populations, linkage disequilibrium is expected to extend for short distances and could provide a powerful fine-mapping tool. Current family-based association tests use nuclear family members to...
- Humans as a Model Organism: The Time Is Now. Johnston, Mark // Genetics;Oct2014, Vol. 198 Issue 2, p441
An introduction to the journal is presented wherein the editor discusses various papers published within the issue, including one on the use of model organisms in human genetics and another on human disease gene discovery, along with some information on genetic concepts that the journal would...
- Eugene can be a good or bad boy. Deas, Gerald W. // New York Amsterdam News;02/15/2001, Vol. 92 Issue 7, p32
Discusses the role played by genes in maintaining human health. Diseases that are caused by 'malfunctioning' genes; How proper nutrition can help prevent certain diseases.
- Directed Reading Continuing Education Quiz: Genetics and Genomic Medicine. // Radiologic Technology;Mar/Apr2009, Vol. 80 Issue 4, p336
A quiz concerning genetics and genomic medicine is presented.
- Genetics in medicine: The future is here. Korf, Bruce R. // Patient Care;11/15/1998, Vol. 32 Issue 18, p7
Editorial. Encourages the American public to update their knowledge about the technological advances in human medical genetics. Requirement of educational efforts at all school levels concerning the advances in genetics; Overall impact of genetics on the day-to-day practice of medicine; Public...
- Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel. Tempest, Vanessa; Iredale, Rachel; Gray, Jonathon; France, Liz; Anstey, Sally; Steward, John // European Journal of Human Genetics;Sep2005, Vol. 13 Issue 9, p1063
Pedigree construction and disease confirmation are the means by which reported family histories are translated into a verified clinical tool informing risk assessment and management decisions by clinical genetics staff. In this study, we hypothesised that pedigree generation data processes do...
- Genome Scan Studies Hold Promise for Cancer. // Bioworld Week;3/23/2009, Vol. 17 Issue 12, p5
The article highlights the genome association studies (GWASs), which is an approach that involves rapidly scanning markers across the complete sets of genomes of many people to find genetic variations associated with a particular disease, such as diabetes and cancer. In conducting a GWAS, DNA...
- A commentary on the promise of whole-exome sequencing in medical genetics. Kaname, Tadashi; Yanagi, Kumiko; Naritomi, Kenji // Journal of Human Genetics;Mar2014, Vol. 59 Issue 3, p117
No abstract available.