Benjamin M Nash1,2,3,4, Dale Wright2,4, Bruce Bennetts2,4, John Grigg1,3,4, Robyn V Jamieson1,3,4 1 Eye Genetics Research Unit, Children’s Medical Research Institute, Sydney Children’s Hospital Network, Hawkesbury Rd, Westmead, NSW 2145 Australia 2 Sydney Genome Diagnostics, Sydney Children’s Hospital Network, Hawkesbury...
- February 17, 2017
Hazel E Phillimore1, Rebecca Gould1, Belinda Chong1, Desirée Du Sart1 1 Molecular Genetics Laboratory, Victorian Clinical Genetics Service, Murdoch Children’s Research Institute/Royal Children’s Hospital, 50 Flemington Road, Parkville, Victoria, Australia Friedreich ataxia (FRDA) is a common autosomal recessive ataxia that...
- February 17, 2017
Peter Field1, Melinda Richter1, Nicole Martin1 1 Virtus Diagnostics – QFG Genetics, Level 1 Boundary Court, 55 Little Edward Street, Brisbane, QLD, 4000 Spinal Muscular Atrophy (SMA) is a severe life limiting autosomal recessive condition with a carrier rate of...
- February 17, 2017
Sarah Pantaleo1 *, Belinda Chong1, Daniel Flanagan1, Ivan Macciocca 2, Jacob Mathew 3 & Desirée du Sart1 1 Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Victoria, Australia 2 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Victoria, Australia 3 Cardiology Department,...
- February 17, 2017
Greg B Peters1, Con Ngo, & Dale Wright. 1 Sydney Genome Diagnostics, Children’s Hospital Westmead, Hawkesbury Road & Hainsworth Street, Westmead, NSW 2145, Australia Microarray technology has been in routine diagnostic use for more than a decade, and much...
- February 17, 2017
Paul De Fazio1, Ling Sun1, Matthew Hunter2, Abhijit Kulkarni1 1 Cytogenetics, Monash Health, Monash Medical Centre, Clayton, Victoria, 3168 2 Monash Genetics, Monash Health, Monash Medical Centre, Clayton, Victoria, 3168 Approximately 15% of all clinically recognized pregnancies result in...
- February 17, 2017
Abhijit Kulkarni1, Lucy Gugasyan1, Paul Shekleton2, Matthew Hunter3 1 Cytogenetics, Monash Pathology, Monash Medical Centre, Clayton, Victoria, 3168 Abhijit.Kulkarni@Monashhealth.org 2 Fetal Diagnostic Unit, Monash Medical Centre, Monash Medical Centre, Victoria, 3168 3 Monash Genetics, Monash Medical Centre, Victoria, 3168 ...
- February 17, 2017
Lorna Williams1, Paula Lall, Louise Hills, David Francis, Ralph Oertel, Amber Boys, Fiona Norris 1 Victorian Clinical Genetics Services, Royal Children’s Hospital, 50 Flemington Rd, Parkville, VIC 3052. Email: lorna.williams@vcgs.org.au Chromosome microarray analysis (CMA), initially offered in the context of...
- February 17, 2017
Andrea Tokaji1 1 Fighting for International Justice Foundation This paper discusses the current gap in legislation and policy in relation to the trafficking of women and forced prostitution in Australia. International best practice models will be considered through a human...
- February 15, 2017
Siobhan Battersby, Praveen Sharma, Dorothy Hung, Luke St Heaps, Dale Wright Sydney Genome Diagnostics, Children’s Hospital at Westmead, NSW, Australia Background: The recurrent t(8;21) abnormality found in primary acute myeloid leukaemia (AML) is associated with a favourable prognosis. In therapy-related...
- February 15, 2017
