Search Results - "DU SART, D"

Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families by Gillies, R L, Bjorksten, A R, Du Sart, D, Hockey, B M

“…Defects in the genes coding for the skeletal muscle ryanodine receptor (RYR1) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been…”
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Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: Continuing the search for genes associated with malignant hyperthermia by Bjorksten, A. R., Gillies, R. L., Hockey, B. M., Du Sart, D.

“…The genetic basis of malignant hyperthermia (MH) is not fully characterised and likely involves more than just the currently classified mutations in the gene…”
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred by THIFLAULT, I, HAMEL, N, GOLDGAR, D, GRAHAM, T, NAROD, S, WATTERS, A. K, MACNAMARA, E, DU SART, D, CHONG, G, FOULKES, W. D, PAL, T, MCVETY, S, MARCUS, V. A, FARBER, D, COWIE, S, DESCHENES, J, MESCHINO, W, ODEFREY, F

“…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…”
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Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots by GILLIES, R. L, BJORKSTEN, A. R, DAVIS, M, DU SART, D

“…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…”
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Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis by Delatycki, MB, Allen, KJ, Nisselle, AE, Collins, V, Metcalfe, S, du Sart, D, Halliday, J, Aitken, MA, Macciocca, I, Hill, V, Wakefield, A, Ritchie, A, Gason, AA, Nicoll, AJ, Powell, LW, Williamson, R

“…HFE-associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily…”
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Familial adenomatous polyposis by Macrae, Finlay, MBBS (Hons1), MD, FRACP, FRCP (UK), AGAF, du Sart, D, Nasioulas, S

“…A multimodal approach of complementary techniques targeting primarily truncating, deletion and rearrangement mutations provides a robust screening protocol…”
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The relationship between neonatal immunoreactive trypsinogen, ΔF508, and IVS8-5T by MASSIE, JOHN, DU SART, DESIREE, FORSHAW, KARINA, CARLIN, JOHN, FORREST, S M

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Linking Genotype and Phenotype in Hypertrophic Cardiomyopathy by Ellims, A, Iles, L, Ling, L, Chong, B, Macciocca, I, Hare, J, Kaye, D, James, P, du Sart, D, Taylor, A

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Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene by Fahey, M C, Knight, M A, Shaw, J H, Gardner, R J McK, du Sart, D, Lockhart, P J, Delatycki, M B, Gates, P C, Storey, E

“…We report our observations in an Australian family with spinocerebellar ataxia type 14 (SCA 14). We describe a novel mutation in exon 5 of the PRKCG gene,…”
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A Prospective Study of Sudden Cardiac Death among Children and Young Adults by Bagnall, Richard D, Weintraub, Robert G, Ingles, Jodie, Duflou, Johan, Yeates, Laura, Lam, Lien, Davis, Andrew M, Thompson, Tina, Connell, Vanessa, Wallace, Jennie, Naylor, Charles, Crawford, Jackie, Love, Donald R, Hallam, Lavinia, White, Jodi, Lawrence, Christopher, Lynch, Matthew, Morgan, Natalie, James, Paul, du Sart, Desirée, Puranik, Rajesh, Langlois, Neil, Vohra, Jitendra, Winship, Ingrid, Atherton, John, McGaughran, Julie, Skinner, Jonathan R, Semsarian, Christopher

“…In 490 cases of sudden cardiac death identified over a 3-year period (annual incidence of 1.3 per 100,000), causes were found in 60% through conventional…”
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Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis by Nisselle, AE, Delatycki, MB, Collins, V, Metcalfe, S, Aitken, MA, Du Sart, D, Halliday, J, Macciocca, I, Wakefield, A, Hill, V, Gason, A, Warner, B, Calabro, V, Williamson, R, Allen, KJ

“…There is debate as to whether community genetic screening for the mutation(s) causing hereditary hemochromatosis (HH) should be implemented, due to issues…”
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Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness by Dahl, Hans‐Henrik M, Saunders, Kerryn, Kelly, Therese M, Osborn, Amelia H, Wilcox, Stephen, Cone‐Wesson, Barbara, Wunderlich, Julia L, Du Sart, Desiree, Kamarinos, Maria, Gardner, Robert J McKinlay, Dennehy, Shirley, Williamson, Robert, Vallance, Neil, Mutton, Patricia

“…ABSTRACT Objective To determine (1) the prevalence and nature of connexin 26 mutations in a cohort of Australian children with non‐syndromic hearing loss, and…”
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A novel nuclear protein binds centromeric alpha satellite DNA by Gaff, C, du Sart, D, Kalitsis, P, Iannello, R, Nagy, A, Choo, K H

“…We have previously reported the identification of a naturally occurring junction between alpha satellite and satellite III DNA on human chromosomes 13, 14 and…”
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A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype by Ellims, Andris H, Iles, Leah M, Ling, Liang-han, Chong, Belinda, Macciocca, Ivan, Slavin, Glenn S, Hare, James L, Kaye, David M, Marasco, Silvana F, McLean, Catriona A, James, Paul A, du Sart, Desirée, Taylor, Andrew J

“…In hypertrophic cardiomyopathy (HCM), attempts to associate genotype with phenotype have largely been unsuccessful. More recently, cardiac magnetic resonance…”
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Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy by Farrar, Michelle A., Vucic, Steve, Lin, Cindy S.-Y., Park, Susanna B., Johnston, Heather M., du Sart, Desirée, Bostock, Hugh, Kiernan, Matthew C.

“…Spinal muscular atrophy is distinct among neurodegenerative conditions of the motor neuron, with onset in developing and maturing patients. Furthermore, the…”
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A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation by Gochee, Peter A., Powell, Lawrie W., Cullen, Digby J., Du Sart, Desiree, Rossi, Enrico, Olynyk, John K.

“…Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y mutation have been well characterized, the effects of…”
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New polymorphic DNA marker close to the fragile site FRAXA by Oostra, B A, Hupkes, P E, Perdon, L F, van Bennekom, C A, Bakker, E, Halley, D J, Schmidt, M, Du Sart, D, Smits, A, Wieringa, B

“…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…”
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Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds by Scott, Rodney J., McPhillips, Mary, Meldrum, Cliff J., Fitzgerald, Patrick E., Adams, Kirsten, Spigelman, Allan D., du Sart, Desiree, Tucker, Kathy, Kirk, Judy

“…Hereditary nonpolyposis colorectal cancer (HNPCC) describes the condition of a disparate group of families that have in common a predisposition to colorectal…”
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Hierarchical self-assembly of two-length-scale multiblock copolymers by ten Brinke, Gerrit, Loos, Katja, Vukovic, Ivana, du Sart, Gerrit Gobius

“…The self-assembly in diblock copolymer-based supramolecules, obtained by hydrogen bonding short side chains to one of the blocks, as well as in…”
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Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases by Schmidt, M, Du Sart, D

“…We reviewed 122 cases of balanced X-autosome translocations in females, with respect to the X inactivation pattern, the position of the X break point and the…”
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