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2017 Conference Publication Antenatally determined sesquizygosity in gender discordant monochorionic diamniotic twins (46,XX/46,XY):- postnatal clinical and gonadal phenotypeConwell, Louise S., Phillips, Gayle E. , Nandini, Adayapalam , Borzi, Peter A. and Gabbett, Michael T. (2017). Antenatally determined sesquizygosity in gender discordant monochorionic diamniotic twins (46,XX/46,XY):- postnatal clinical and gonadal phenotype. 10th International Meeting of Pediatric Endocrinology, Washington, DC, United States, 14-17 September 2017. |
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2017 Conference Publication Idiopathic ductopaenia in a paediatric patient: a case report and interesting clinical biochemistryRuddell, Richard G., Burgess, Christopher, Huynh, Tony, Conwell, Louise S., Balouch, Fariha, Burke, Matthew and Pretorius, Carel (2017). Idiopathic ductopaenia in a paediatric patient: a case report and interesting clinical biochemistry. Clinical Lipidology (3rd World Congress), Brisbane, QLD, Australia, unknown. |
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2017 Conference Publication Lessons Learnt from Two Cases of Congenital Hyperinsulinism from Remote Indigenous Australian CommunitiesMusthaffa, Yassmin M., Papadimos, Emily R. , Fairchild, Jan , Huynh, Tony and Conwell, Louise S. (2017). Lessons Learnt from Two Cases of Congenital Hyperinsulinism from Remote Indigenous Australian Communities. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Hobart , Tasmania, Australia, 26-29 November 2017. |
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2017 Conference Publication 46,XX Ovotesticular Disorder of Sex Developement (DSD):- duplication of the XX SR region upstream of the critical testicular gene SOX9Conwell, Louise S., Stathis, Stephen, Franklin, Annie, Borzi, Peter A., Nandini, Adayapalam, Phillips, Gayle E., Ohnesorg, Thomas, Ayers, Katie L. and Sinclair, Andrew H. (2017). 46,XX Ovotesticular Disorder of Sex Developement (DSD):- duplication of the XX SR region upstream of the critical testicular gene SOX9. 3rd Annual Children's Health Queensland Research Symposium, Brisbane, Queensland, Australia, 1 November 2017. |
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2017 Conference Publication Antenatally determined sesquizygosity in gender discordant monochorionic diamniotic twins (46, XX/46, XY): - postnatal clinical and gonadal phenotypeConwell, Louise S., Phillips, Gayle E., Nandini, Adayapalam, Borzi, Peter A. and Gabbett, Michael T. (2017). Antenatally determined sesquizygosity in gender discordant monochorionic diamniotic twins (46, XX/46, XY): - postnatal clinical and gonadal phenotype. 10th International Meeting of Pediatric Endocrinology, Washington, DC, United States, 14 - 17 September 2017. Basel, Switzerland: S. Karger AG. doi: 10.1159/000481424 |
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2016 Conference Publication Beckwith Wiedemann Syndrome (BWS) in the Context of Mosaic Genome-Wide Paternal Uniparental Disomy (GWpUPD) - Female Infant with Hemihyperplasia, Hyperinsulinism, Benign Tumours and Respiratory DiseaseConwell, Louise S., Williams, Judith A., Davies, Mark, Irving, Helen, Kapur, Nitin and Gattas, Michael (2016). Beckwith Wiedemann Syndrome (BWS) in the Context of Mosaic Genome-Wide Paternal Uniparental Disomy (GWpUPD) - Female Infant with Hemihyperplasia, Hyperinsulinism, Benign Tumours and Respiratory Disease. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Alice Springs, NT Australia, 14 – 17 August 2016. |
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2016 Conference Publication Beckwith Wiedemann Syndrome (BWS) in the Context of Mosaic Genome-Wide Paternal Uniparental Disomy (GWpUPD) - Female Infant with Hemihyperplasia, Hyperinsulinism, Benign Tumours and Respiratory DiseaseConwell, Louise S., Williams, Judith A., Davies, Mark, Irving, Helen, Kapur, Nitin and Gattas, Michael (2016). Beckwith Wiedemann Syndrome (BWS) in the Context of Mosaic Genome-Wide Paternal Uniparental Disomy (GWpUPD) - Female Infant with Hemihyperplasia, Hyperinsulinism, Benign Tumours and Respiratory Disease. Children's Health Queensland Research Conference, Brisbane, QLD Australia, 2016. |
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2016 Conference Publication Beckwith Wiedemann Syndrome (BWS) in the Context of Mosaic Genome-Wide Paternal Uniparental Disomy (GwUPD) - Female Infant with Hemihyperplasia, Hyperinsulinism, Benign Tumours and Respiratory DiseaseConwell, Louise S. (2016). Beckwith Wiedemann Syndrome (BWS) in the Context of Mosaic Genome-Wide Paternal Uniparental Disomy (GwUPD) - Female Infant with Hemihyperplasia, Hyperinsulinism, Benign Tumours and Respiratory Disease. Congenital Hypoglycaemic Disorders: Hyperinsulinism and Glycogen Storage Disease Conference, Philadelphia, Pennsylvania USA, 14-15 April 2016. |
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2016 Conference Publication Insulin Regimens for Newly Diagnosed Children with Type 1 Diabetes in Australia and New Zealand - A Survey of Current PracticeSelvakumar, Dharrshinee , Al-Sallami, Hesham S. , de Bock, Martin , Ambler, Geoffrey R. , Aguirre, Paul B. , Wiltshire, Esko , Tham, Elaine , Simm, Peter , Conwell, Louise S. , Carter, Phillipa , Willis, Jinny , Wheeler, Benjamin J. and PSNZ Diabetes Clinical Network (2016). Insulin Regimens for Newly Diagnosed Children with Type 1 Diabetes in Australia and New Zealand - A Survey of Current Practice. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Alice Springs, Northern Territory, Australia, 14 – 17 August 2016. |
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2016 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 (2016). 18[F]-DOPA PET/CT imaging in congenital hyperinsulinism - first 5 years of the Australian experience. Congenital Hypoglycaemic Disorders: Hyperinsulinism and Glycogen Storage Disease Conference, Philadelphia, PA, United States, 14-15 April 2016. |
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2016 Conference Publication Massively parallel sequencing to determine the prevalence of maturity onset diabetes of the young in an entire paediatric diabetes clinic including antibody positive type 1 diabetesJohnson, Stephanie R., Davis, Elizabeth, Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2016). Massively parallel sequencing to determine the prevalence of maturity onset diabetes of the young in an entire paediatric diabetes clinic including antibody positive type 1 diabetes. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Alice Springs, NT, Australia, unknown. |
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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. |
