Genomes and Genes
Stefan J White
Affiliation: Monash University
- SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotypeRemko Hersmus
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
BMC Med Genet 13:108. 2012..SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads...
- A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex developmentStefan White
Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
Eur J Hum Genet 20:348-51. 2012..Previously described Wwox knockout mouse models showed gonadal abnormalities, supporting a role for WWOX in human gonad development...
- DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumoursCarmela M de Boer
Center for Reproduction and Development, Monash Institute of Medical Research, Monash University, Clayton, Australia
BMC Res Notes 5:569. 2012..Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites...
- Detecting DNaseI-hypersensitivity sites with MLPAThomas Ohnesorg
Molecular Development Laboratory, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Vic, Australia
Methods Mol Biol 786:201-10. 2012..This chapter outlines the approach and discusses the critical features of each step of the procedure...
- Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplificationAmanda J Notini
Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Melbourne, Vic, Australia
Transgenic Res 18:987-91. 2009..This probe mix can be easily implemented in any laboratory with access to a PCR machine and a DNA sequencer, and can be rapidly adapted to genotype any additional loci of interest...
- The many faces of MLPAThomas Ohnesorg
Molecular Development, Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
Methods Mol Biol 687:193-205. 2011..This chapter outlines the basic MLPA protocol, describes the different modifications and applications that have been published, and discusses the critical points during each of the steps...
- Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degenerationStuart Cantsilieris
Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
PLoS ONE 7:e35255. 2012..95 1.38-41.8). This is the first report of a phenotype specific association of a CNV for a major subtype of AMD and potentially allows for pre-diagnostic identification of individuals most likely to proceed to this end stage of disease...
- Correlating multiallelic copy number polymorphisms with disease susceptibilityStuart Cantsilieris
Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Victoria, Australia
Hum Mutat 34:1-13. 2013....