11 - Medical and Health Sciences
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This community contains Flinders' research in Medical and Health Sciences that has been collected for ERA 2012.
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Browsing 11 - Medical and Health Sciences by Subject "0604 Genetics"
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Item Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1(2009) Grist, Scott Andrew; Beddor, Jennifer; Pino, Maria A; Carvalho, Marcelo; Mesquita, Rafael D; Billack, Blase; Karchin, Rachel; Godinho-Netto, Martha; Rodarte, Renato S; Colombo, Mara; Ripamonti, Carla B; Rosenquist, Richard; Suthers, Graeme; Radice, Paolo; Monteiro, Alvaro N A; Monteiro, Viviane A; Manoukian, Siranoush; Borg, AkeItem Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people(2008) Baird, Paul N; Wang, Jie Jin; Mackey, David A; Mitchell, Paul; Sharma, Shiwani; Burdon, Kathryn Penelope; Hewitt, Alex W; Dimasi, David Paul; Craig, Jamie EItem Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci(2008) Giunta, Cecilia; Hewitt, Alex W; Craig, Jamie E; Latimer, Paul; Burdon, Kathryn Penelope; Coster, Douglas John; Charlesworth, Jac C; Mills, Richard Arthur; Laurie, KateItem The caudal-related homeodomain protein Cdx2 and hepatocyte nuclear factor 1-alpha cooperatively regulate the UDP-glucuronosyltransferase 2B7 gene promotor(2006) Gregory, Philip A; Gardner-Stephen, Dione Anne; Rogers, Anne; Michael, Michael Zenon; Mackenzie, Peter IanItem DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease(2008) Porta, Silvia; Arbones, Maria L; Keating, Damien John; Dubach, Daphne; Zanin, Mark Phillip; Yu, Yong; Martin, Katherine; Zhao, Yu-Feng; Chen, Chen; Mittaz, Laureane; Pritchard, Melanie AItem Hepatocyte nuclear factor1 transcription factors are essential for the UDP-glucuronosyltransferase 1A9 promoter response to hepatocyte nuclear factor 4alpha(2007) Gardner-Stephen, Dione Anne; Mackenzie, Peter IanItem Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates(2007) Elliot, David John; Miners, John Oliver; Udomuksorn, Wandee; Lewis, Benjamin Cavell; Mackenzie, Peter Ian; Yoovathaworn, KrontongItem Interactions with other human UDP-glucuronosyltransferases attenuate the consequences of the Y485D mutation on the activity and substrate affinity of UGT1A6(2007) Court, M H; Tate, Christopher G; Hirvonen, Jouni; Kurkela, Mika; Patana, Anne-Sisko; Mackenzie, Peter Ian; Goldman, Adrian; Finel, MosheItem Lentivirus-mediated gene transfer to the rat, ovine and human cornea(2007) Kaufmann, Claude; Brereton, Helen Mary; Anson, Donald; Francis-Staite, L; Jessup, Claire Frances; Marshall, Kirsty Angela; Tan, C; Koldej, Rachel; Coster, Douglas John; Williams, Keryn Anne; Parker, DougItem Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities(2008) Dubach, Daphne; Finkelstein, David I; Pritchard, Melanie A; Tkalcevic, Josephine; Yu, Yong; Chu, Po-Yin; Harper, Ian; Bowser, David N; Keating, Damien JohnItem Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patient(2006) Lower, Karen Marie; Crawford, Jo; Hennekam, R; van Esch, H; Megarbane, A; Lynch, SA; Turner, Gillian; Gecz, JozefItem Myocilin allele-specific glaucoma phenotype database(2008) Craig, Jamie E; Hewitt, Alex W; Mackey, David AItem Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions(2006) Sharma, Shiwani; Ang, Sharyn; Shaw, Marie A; Mackey, David A; Gecz, Jozef; McAvoy, J; Craig, Jamie EItem A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site(2007) Burdon, Kathryn Penelope; Sharma, Shiwani; Mackey, David A; Dimasi, David Paul; Craig, Jamie E; Chen, Celia Shin WenItem Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach(2008) Tischkowitz, Marc; Hamel, Nancy; Carvalho, Marcelo; Birrane, Gabriel; Soni, Aditi; Van Beers, Erik H; Joosse, Simon A; Wong, Nora; Quenneville, Louise A; Grist, Scott Andrew; ConFab Investigators; Nederlof, Petra; Goldgar, David; Tavtigian, Sean V; Monteiro, Alvaro; Ladias, John A; Foulkes, William D; Novak, DavidItem Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma(2007) Elder, James E; Casey, T; Mackey, David A; Craig, Jamie E; MacKinnon, Jane R; Hewitt, Alex W; Dimasi, David Paul; Pater, John Brian; Straga, TaniaItem Rapid inexpensive genome-wide association using pooled whole blood(2009) Craig, Jamie E; Sharma, Shiwani; Hewitt, Alex W; McMellon, Amy E; Henders, Anjali K; Wallace, Leanne; Ma, Lingjun; Burdon, Kathryn Penelope; Visscher, Peter; Montgomery, Grant W; MacGregor, StuartItem Relationship between hyperbilirubinaemia and UDP-glucoronosyltransferase 1A1 (UGT1A1) polymorphism in adult HIV-infected Thai patients treated with indinavir(2006) Boyd, Mark Alastair; Srasuebkul, Preeyaporn; Ruxrungtham, Kiat; Uchaipichat, Verawan Nu; Mackenzie, Peter Ian; Stek, Michael; Lange, Joep M A; Phanuphak, Praphan; Cooper, David A; Udomuksorn, Wandee; Miners, John OliverItem The role of the polycomb complex in silencing {alpha}-globin expression in nonerythroid cells(2008) Garrick, David; Rugless, Michelle; Holland, Michelle; Ayyub, Helena; Sloane-Stanley, Jackie; Gray, Nicki; De Gobbi, Marco; Samara, Vicky; Lower, Karen Marie; Koch, Cristoph; Dunham, Ian; Higgs, DougItem Understanding pluripotency--how embryonic stem cells keep their options open(2008) Johnson, Brett; Keough, Rebecca; Shindo, Norihisa; Rathjen, Peter; Rathjen, J