Zobrazeno 1 - 10
of 105
pro vyhledávání: '"D Du Sart"'
Publikováno v:
Anaesthesia and Intensive Care. 43:157-166
Defects in the genes coding for the skeletal muscle ryanodine receptor (RYR1) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia (MH). Sixty-two MH susceptible individuals presen
Publikováno v:
Anaesthesia and intensive care. 44(6)
The genetic basis of malignant hyperthermia (MH) is not fully characterised and likely involves more than just the currently classified mutations in the gene encoding the skeletal muscle ryanodine receptor ( RYR1) and the gene encoding the α1 subuni
Publikováno v:
Best Practice & Research Clinical Gastroenterology. 23:197-207
A multimodal approach of complementary techniques targeting primarily truncating, deletion and rearrangement mutations provides a robust screening protocol that identifies the vast majority of pathogenic germline APC gene mutations in FAP patients. P
Publikováno v:
Anaesthesia and Intensive Care. 36:391-403
Advances in analysis of the RYR1 gene (which encodes the skeletal muscle ryanodine receptor) show that genetic examination is a useful adjunct to the in vitro contracture test in the diagnosis of malignant hyperthermia, as defects in RYR1 have been s
Autor:
Amy Nisselle, B Warner, Ivan Macciocca, V Collins, MaryAnne Aitken, Robert Williamson, A Wakefield, V Hill, Katrina J. Allen, Jane Halliday, AA Gason, V Calabro, D du Sart, Martin B. Delatycki, Sylvia A Metcalfe
Publikováno v:
Clinical Genetics. 65:358-367
There is debate as to whether community genetic screening for the mutation(s) causing hereditary hemochromatosis (HH) should be implemented, due to issues including disease penetrance, health economic outcomes, and concerns about community acceptance
Autor:
D Du Sart, J Deschênes, Isabelle Thiffault, N Hamel, David E. Goldgar, E. MacNamara, Victoria Marcus, Shannon Cowie, Wendy S. Meschino, William D. Foulkes, D. Farber, Fabrice Odefrey, Steven A. Narod, Tuya Pal, George Chong, T Graham, A K Watters, Susan McVety
Publikováno v:
British Journal of Cancer
There has been interest in the literature in the possible existence of a gene that predisposes to both breast cancer (BC) and colorectal cancer (CRC). We describe the detailed characterisation of one kindred, MON1080, with 10 cases of BC or CRC invas
Autor:
MaryAnne Aitken, Sylvia A Metcalfe, Amy Nisselle, A Ritchie, Katrina J. Allen, Jane Halliday, V Hill, Ivan Macciocca, AA Gason, Lawrie W. Powell, Robert Williamson, Amanda Nicoll, A Wakefield, Martin B. Delatycki, Veronica Collins, D du Sart
Publikováno v:
The Lancet. 366:314-316
Summary HFE -associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily prevented. However, genetic screening for this disease is controversial, and so we assesse
Publikováno v:
Human Molecular Genetics. 3:711-716
We have previously reported the identification of a naturally occurring junction between alpha satellite and satellite III DNA on human chromosomes 13, 14 and 21. Direct sequence analysis has shown that the 9 bp alphoid-derived direct repeat sequence
Autor:
D. J. J. Halley, C. A. van Bennekom, Malgorzata Schmidt, Ben A. Oostra, D. Du Sart, Egbert Bakker, Arie P. T. Smits, B. Wieringa, P.E. Hupkes, B.A. van Oost, L.F. Perdon
Publikováno v:
Genomics. 6:129-132
DNA from a human-hamster hybrid cell line, 908-K1B17, containing a small terminal portion of the long arm of the human X chromosome as well as the pericentric region of 19q was used as starting material for the isolation of an X-chromosome-specific D
Autor:
D. du Sart, Andris H. Ellims, Andrew J. Taylor, Belinda Chong, Ivan Macciocca, Leah M. Iles, Paul A. James, David M. Kaye, Liang-Han Ling, James L. Hare
Publikováno v:
Heart, Lung and Circulation. 22:S57-S58