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2015 Journal Article Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing lossGagliardi, Lucia, Nataren, Nathalie, Feng, Jinghua, Schreiber, Andreas W., Hahn, Christopher N., Conwell, Louise S., Coman, David and Scott, Hamish S. (2015). Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. American Journal of Medical Genetics, Part A, 167 (8), 1872-1876. doi: 10.1002/ajmg.a.37075 |
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2015 Journal Article Relation of reduced preclinical left ventricular diastolic function and cardiac remodeling in overweight youth to insulin resistance and inflammationDahiya, Rachana, Shultz, Sarah P., Dahiya, Arun, Fu, Jinlin, Flatley, Christopher, Duncan, Danusia, Cardinal, John, Kostner, Karam M., Byrne, Nuala M., Hills, Andrew P., Harris, Mark, Conwell, Louise S. and Leong, Gary M. (2015). Relation of reduced preclinical left ventricular diastolic function and cardiac remodeling in overweight youth to insulin resistance and inflammation. American Journal of Cardiology, 115 (9), 1222-1228. doi: 10.1016/j.amjcard.2015.02.005 |
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2015 Conference Publication A tale of two syndromes: an instructive case of two synchronous variants in ABCC8 and DICER1Conwell, L. S., Wu, M. K., deBock, L., King, B. R., Stewart, C. J., Choong, C. S. and Foulkes, W. D. (2015). A tale of two syndromes: an instructive case of two synchronous variants in ABCC8 and DICER1. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, Queensland, Australia, October 2015. |
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2015 Conference Publication Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathySharwood, Erin F., McGill, Michael, Koorts, P. J., Coman, David and Conwell, Louise S. (2015). Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, Queensland, Australia, October 2015. |
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2015 Conference Publication 1,5-Anhydroglucitol, the most discriminatory metabolomic marker measured by Gas Chromatography-Mass Spectrometry in adolescents with Type 1 Diabetes compared to control subjects - high correlation with Glycomark assayConwell, Louise S., Hodson, Mark P., Chrysanthopoulos, Panagiotis K., Greer, Ristan M., Nielsen, Lars K., Cardinal, John W., Sanders, L., Gous, R. and Baskerville, Tracey (2015). 1,5-Anhydroglucitol, the most discriminatory metabolomic marker measured by Gas Chromatography-Mass Spectrometry in adolescents with Type 1 Diabetes compared to control subjects - high correlation with Glycomark assay. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, QLD, Australia, October 2015. |
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2015 Conference Publication A tale of two syndromes: an instructive case of two synchronous variants in ABCC8 and DICER1Conwell, L. S., Wu, M. K., deKock, L., King, B. R., Stewart, C. J., Choong, C. S. and Foulkes, W. D. (2015). A tale of two syndromes: an instructive case of two synchronous variants in ABCC8 and DICER1. Children's Health Queensland Research Conference, Brisbane, Queensland, Australia, December 2015. |
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2015 Conference Publication 18[F]-DOPA PET/CT imaging in congenital hyperinsulinism - first 5 years of the Australian experienceConwell, Louise S., Greer, Ristan M., Fiumara, Frank and Campbell, Louise (2015). 18[F]-DOPA PET/CT imaging in congenital hyperinsulinism - first 5 years of the Australian experience. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, QLD, Australia, October 2015. |
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2015 Conference Publication 18[F]-DOPA PET/CT imaging in Congenital Hyperinsulinism - first 5 years of the Australian experienceConwell, Louise S., Greer, Ristan M., Fiumara, Frank and Campbell, Louise (2015). 18[F]-DOPA PET/CT imaging in Congenital Hyperinsulinism - first 5 years of the Australian experience. Children's Health Queensland Research Conference, Brisbane, Queensland, Australia, December 2015. |
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2015 Conference Publication Prevalence of Maturity Onset Diabetes of the young in a Western Australian paediatric diabetes clinic using targeted Massively Parallel SequencingJohnson, Stephanie R., Davis, Elizabeth, Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2015). Prevalence of Maturity Onset Diabetes of the young in a Western Australian paediatric diabetes clinic using targeted Massively Parallel Sequencing. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, Queensland, Australia: University of Queensland, October 2015. |
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2015 Conference Publication 1,5-Anhydroglucitol, the most discriminatory metabolomic marker measured by Gas Chromatography-Mass Spectrometry in adolescents with Type 1 Diabetes compared to control subjects - High correlation with Glycomark assayConwell, Louise S., Hodson, Mark P., Chrysanthopoulos, Panagiotis K., Greer, Ristan M., Nielsen, Lars K., Cardinal, John W., Sanders, L., Gous, R. and Baskerville, Tracey (2015). 1,5-Anhydroglucitol, the most discriminatory metabolomic marker measured by Gas Chromatography-Mass Spectrometry in adolescents with Type 1 Diabetes compared to control subjects - High correlation with Glycomark assay. Children's Health Queensland Research Conference, unknown, unknown. |
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2015 Conference Publication Prevalence of Maturity Onset Diabetes of the Young in a Western Australia paediatric diabetes clinic using targeted Massively Parallel SequencingJohnson, Stephanie R., Davis, Elizabeth, Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2015). Prevalence of Maturity Onset Diabetes of the Young in a Western Australia paediatric diabetes clinic using targeted Massively Parallel Sequencing. Children's Health Queensland Research Conference, Brisbane Qld Australia, December 2015. |
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2015 Conference Publication Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathySharwood, E. F., McGill, M., Koorts, P. J., Coman, D. and Conwell, L. S. (2015). Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy. Children's Health Queensland Research Conference, Brisbane, Queensland, Australia, December 2015. |
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2014 Conference Publication Next generation sequencing to identify a novel INS gene mutation in a family with Maturity Onset Diabetes of the Young (MODY)Johnson, Stephanie R., McGown, Ivan N., Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2014). Next generation sequencing to identify a novel INS gene mutation in a family with Maturity Onset Diabetes of the Young (MODY). APPES & APEG 2014: Asia Pacific Paediatric Endocrine Society & Australasian Paediatric Endocrine Group Joint Annual Scientific Meeting, Darwin, NT, Australia, 29 October-1 November, 2014. |
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2014 Conference Publication Altered cardiac structure, diastolic function and markers of cardiovascular risk (inflammation, oxidative stress and endothelial dysfunction) in adolescents with type 1 diabetesConwell, Louise S., Baskerville, Tracey, Duncan, Danusia, Greer, Ristan M., Coombes, Jeff S., Cardinal, John, Leong, Gary M., Harris, Mark and Kostner, Karam (2014). Altered cardiac structure, diastolic function and markers of cardiovascular risk (inflammation, oxidative stress and endothelial dysfunction) in adolescents with type 1 diabetes. APPES & APEG 2014: Asia Pacific Paediatric Endocrine Society & Australasian Paediatric Endocrine Group Joint Annual Scientific Meeting, Darwin, NT, Australia, 29 October-1 November, 2014. |
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2014 Conference Publication 1,5-Anhydroglucitol, an indicator of short term glycaemic control, is the most discriminatory metabolomic marker in adolescents with type 1 diabetes compared to control subjectsConwell, Louise S., Hodson, Mark P., Chrysanthopoulos, Panagiotis K., Greer, Ristan M. and Baskerville, Tracey (2014). 1,5-Anhydroglucitol, an indicator of short term glycaemic control, is the most discriminatory metabolomic marker in adolescents with type 1 diabetes compared to control subjects. APPES & APEG 2014: Asia Pacific Paediatric Endocrine Society & Australasian Paediatric Endocrine Group Joint Annual Scientific Meeting, Darwin, NT, Australia, 29 October-1 November, 2014. |
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2014 Conference Publication Next generation sequencing for maturity onset diabetes of the youngJohnson, Stephanie R., Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2014). Next generation sequencing for maturity onset diabetes of the young. APPES & APEG 2014: Asia Pacific Paediatric Endocrine Society & Australasian Paediatric Endocrine Group Joint Annual Scientific Meeting, Darwin, NT, Australia, 29 October-1 November, 2014. |
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2014 Conference Publication Next generation sequencing for maturity onset diabetes of the youngJohnson, Stephanie R., Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2014). Next generation sequencing for maturity onset diabetes of the young. ISPAD 2014: 40th Annual Meeting of the International Society of Pediatric and Adolescent Diabetes, Toronto, ON, Canada, 3-6 September, 2014. Berlin, Germany: K.I.T. Group. |
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2014 Conference Publication Novel heterozygous deletion in the HNF1B-MODY5 gene - Adolescent with antibody negative diabetes, longstanding hyperglycaemia without ketosis, cataracts, small echogenic kidneys with cortical cyst, pancreatic atrophy, exocrine pancreatic insufficiency andConwell, Louise S. and McGown, Ivan P. (2014). Novel heterozygous deletion in the HNF1B-MODY5 gene - Adolescent with antibody negative diabetes, longstanding hyperglycaemia without ketosis, cataracts, small echogenic kidneys with cortical cyst, pancreatic atrophy, exocrine pancreatic insufficiency and. APPES & APEG 2014: Asia Pacific Paediatric Endocrine Society & Australasian Paediatric Endocrine Group Joint Annual Scientific Meeting, Darwin, NT, Australia, 29 October-1 November, 2014. |
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2014 Conference Publication Resistance training improves metainflammation and body composition in obese adolescentsDayiha, Rachana, Schultz, Sarah P., Cardinal, John, Byrne, Nuala, Hills, Andrew P., Gibbons, Kristen, Conwell, Louise S., Harris, Mark and Leong, Gary M. (2014). Resistance training improves metainflammation and body composition in obese adolescents. APPES & APEG 2014: Asia Pacific Paediatric Endocrine Society & Australasian Paediatric Endocrine Group Joint Annual Scientific Meeting, Darwin, NT, Australia, 29 October-1 November, 2014. |
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2014 Conference Publication Resistance training improves metainflammation and body composition in obese adolescentsDayiha, Rachana, Schultz, Sarah P., Cardinal, John, Byrne, Nuala, Hills, Andrew P., Gibbons, Kristen, Conwell, Louise S., Harris, Mark and Leong, Gary M. (2014). Resistance training improves metainflammation and body composition in obese adolescents. ENDO 2014: Endocrine Society 96th Annual Scientific Meeting & Expo, Chicago, IL, USA, 21-24 June, 2014. Chevy Chase, MD, United States: The Endocrine Society. doi: 10.1210/endo-meetings.2014.OABA.17.SUN-0921 |
