Genetic Test Indications and Interpretations in Patients With Hereditary Angioedema
- Is genetic screening for the Lynch syndrome effective? Misak, Aleksandra // CMAJ: Canadian Medical Association Journal;6/7/2005, Vol. 172 Issue 12, p1557
Discusses research being done on the effectiveness of genetic screening for the Lynch syndrome. Reference to a study by H. Hampel et al, published in the 2005 issue of the "New England Journal of Medicine"; Background of the research; Results; Practice implications.
- Asymptomatic proteinuria, renal cysts and dorsal pancreas agenesis. Lim, Cynthia C.; Lai, Angeline H.M.; Choo, Jason C.J. // Clinical Kidney Journal;Aug2014, Vol. 7 Issue 4, p411
The article presents a case study of 28-year-old woman with no significant past medical history and no family history of diabetes mellitus or kidney disease. Physical examination found mild cortical scarring in the upper pole of the right kidney but no hydronephrosis. Clinical findings suggested...
- ANALYZING ILLUMINA HUMAN 1M SNP DATA FOR CNVS USING RAW BEAD-LEVEL DATA. Shah, Naisha; Conroy, Judith; Regan, Regina; Ennis, Sean; Shields, Denis C. // Ulster Medical Journal;2009, Vol. 78 Issue 1, p67
With the advent of high-throughput genotyping chips, whole genome association studies are undertaken to determine potential candidate loci by linking common SNPs and copy number variations to human disorders like autism. Illumina's Human 1M SNP beadchip is one of the high-throughput genotyping...
- Editorial: The shifting nature of genome scans. // New Scientist;8/1/2009, Vol. 203 Issue 2719, p3
The authors comment on the nature of genome scans or genetic screening. They relate how a genome scan can motivate a person to take the steps necessary to prevent a disease. Information is presented on the importance of environmental factors like diet and exercise in determining who succumbs to...
- Clinical utility gene card for: Dyskeratosis congenita. Dokal, Inderjeet; Vulliamy, Tom; Mason, Philip; Bessler, Monica // European Journal of Human Genetics;Nov2011, Vol. 19 Issue 11, p1
The article offers information on genetic testing for dyskeratosis congenital (DC). It presents a series of questions that should be answered prior to the administration of genetic testing which include the effect of disease management to test result, effect of the test result to lifestyle and...
- Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods. Hollands, Gareth J.; Armstrong, David; Macfarlane, Angela; Crook, Martin A.; Marteau, Theresa M. // BMC Medical Genetics;2012, Vol. 13 Issue 1, p87
Background: Continuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with any screening programme, is the response of the patient to the findings of...
- Poster presentations: 1. Clinical Genetics/Counselling. // Journal of Medical Genetics;Sep2002 Supplement, Vol. 39, pS36
Discusses the abstract of the research paper entitled 'Diagnosing the future,' by Trevor Cole, J.E.V. Morton et al and presented during the British Human Genetics Conference at the University of York in England in September 2002.
- Poster presentations: 3. Molecular Genetics. // Journal of Medical Genetics;Sep2002 Supplement, Vol. 39, pS77
Discusses the abstract of the research paper entitled 'A diagnostic service for detection of DM2 expansion mutations,' by David Cockburn, A.C. Sharpe et al and presented during the British Human Genetics Conference at the University of York in England in September 2002.
- Genetic Testing in the Long QT Syndrome: Development and Validation of an Efficient Approach to Genotyping in Clinical Practice. Napolitano, Carlo; Priori, Silvia G.; Schwartz, Peter J.; Bloise, Raffaella; Ronchetti, Elena; Nastoli, Janni; Bottelli, Georgia; Cerrone, Marina; Leonardi, Sergio // JAMA: Journal of the American Medical Association;12/21/2005, Vol. 294 Issue 23, p2975
Context In long QT syndrome (LQTS), disease severity and response to therapy vary according to the genetic loci. There exists a critical need to devise strategies to expedite genetic analysis. Objective To perform genetic screening in patients with LQTS to determine the yield of genetic testing,...