|
Featured 2012 Conference Publication [18F]-DOPA PET/CT Imaging in Congenital Hyperinsulinism - First 12 months of the Australian experience.Conwell, L. S., Greer, R. M., Walker, R. M., Fiumara, F., Campbell, L., Harris, M. and Cotterill, A. M. (2012). [18F]-DOPA PET/CT Imaging in Congenital Hyperinsulinism - First 12 months of the Australian experience.. Monogenic Disorders of Insulin Secretion: Congenital Hyperinsulinism and Neonatal Disorders, Philadelphia Pennsylvania, 15-16 March 2012. Malden, MA, United States: Wiley-Blackwell Publishing. doi: 10.1111/j.1399-5448.2012.00887.x |
|
2024 Conference Publication Pancreatic regeneration after refractory congenital hyperinsulinism in Beckwith-Wiedemann Syndrome – Imprinting Control Region 1 Gain of Methylation genotypeConwell, Louise S. and McBride, Craig A. (2024). Pancreatic regeneration after refractory congenital hyperinsulinism in Beckwith-Wiedemann Syndrome – Imprinting Control Region 1 Gain of Methylation genotype. Australia and New Zealand Society for Paediatric Endocrinology and Diabetes, Canberra, ACT Australia, 3-6 November 2024. |
|
2024 Conference Publication Resistance to thyroid hormone-alpha: phenotype in a child.Nillsen, Ann, Campbell, Sally, Runge, Antionette and Conwell, Louise S. (2024). Resistance to thyroid hormone-alpha: phenotype in a child.. ANZSPED 2024 Annual Scientific Meeting, Canberra, ACT, Australia, 3 - 6 November 2024. |
|
2023 Conference Publication Developing a collaborative research network to accelerate the understanding and treatment of the rare disease congenital hyperinsulinismPasquini, Tai Pasquini, Raskin, Julie, De Leon-Crutchlow, Diva, Banerjee, Indi, Christesen, Henrik, Conwell, Louise, Dastamani, Antonia, Flanagan, Sarah, Gillis, David, Kalish, Jennifer, Lord, Katherine, Stanley, Charles, Zangen, David and Thornton, Paul (2023). Developing a collaborative research network to accelerate the understanding and treatment of the rare disease congenital hyperinsulinism. 61st Annual ESPE (ESPE 2023), The Hague, Netherlands, 21-23 September 2023. Basel, Switzerland: S. Karger. |
|
2019 Conference Publication Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional funding of pancreatic mosaicism for trisomy 12Conwell, Louise S., Harraway, James R., Williams, Mark G., Joy, Christopher, Scurry, Bonnie M., Lee, Kevin, McBride, Craig A., Choo, Kelvin, Huynh, Tony, Ng, Carolyn G.L. and Flanagan, Sarah E. (2019). Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional funding of pancreatic mosaicism for trisomy 12. The European Society of Paediatric Endocrinology Annual Meeting, Vienna, Austria, 19-21 September 2019. |
|
2019 Conference Publication Refractory Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Imprinting Region 1 Gain of Methylation: severity discordant to genotypeConwell, Louise S., McBride, Craig A., Choo, Kelvin , Tadgell, Shawn C., Fuery, Michelle E. and Davies, Janene R. (2019). Refractory Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Imprinting Region 1 Gain of Methylation: severity discordant to genotype. Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia Conference, Philadelphia, PA United States, 5-6 September 2019. |
|
2019 Conference Publication Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional funding of pancreatic mosaicism for trisomy 12Conwell, Louise S., Harraway, James R., Williams, Mark G., Joy, Christopher, Scurry, Bonnie M., Lee, Kevin, McBride, Craig A., Choo, Kelvin, Huynh, Tony, Ng, Carolyn G.L. and Flanagan, Sarah E. (2019). Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional funding of pancreatic mosaicism for trisomy 12. Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia Conference, Philadelphia, PA United States, 5-6 September 2019. |
|
2019 Conference Publication Neonatal Secondary Hyperparathyroidism: a clue to mucolipidosis type IIPapadimos, E.R., Coman, D., Conwell, L.S., McGill, J., Demetriou, K., Inwood, A. and Harris, M. (2019). Neonatal Secondary Hyperparathyroidism: a clue to mucolipidosis type II. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Adelaide, SA, Australia, 27-30 October 2019. |
|
2019 Conference Publication Hyperinsulinaemic Hypoglycaemia: A new Presentation of 16p11.2 Duplication SyndromeConwell, Louise S. and Flanagan, Sarah F. (2019). Hyperinsulinaemic Hypoglycaemia: A new Presentation of 16p11.2 Duplication Syndrome. Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia Conference, Philadelphia, PA, United States, 5-6 September 2019. |
|
2019 Conference Publication Refractory hyperinsulinaemic hypoglycaemia in Beckwith-Wiedemann syndrome due to imprinting centre 1 gain of methylation: severity discordant to genotypeConwell, Louise, McBride, Craig, Choo, Kelvin, Tadgell, Shawn, Fuery, Michelle and Davies, Janene (2019). Refractory hyperinsulinaemic hypoglycaemia in Beckwith-Wiedemann syndrome due to imprinting centre 1 gain of methylation: severity discordant to genotype. 58th Annual Meeting of the ESPE, Vienna, Austria, 19-21 September 2019. Basel, Switzerland: S. Karger. |
|
2019 Conference Publication Children's Health Queensland Interprofessional Review of Management Decisions in Differences of Sex DevelopmentConwell, Louise S. (2019). Children's Health Queensland Interprofessional Review of Management Decisions in Differences of Sex Development. Inaugural Children's Health Queensland Interprofessional Practice and Education Symposium, Brisbane, QLD, Australia, 26 June 2019. |
|
2019 Conference Publication Hyperinsulinaemic Hypoglycaemia: A New Presentation of 16p11.2 Duplication SyndromeConwell, Louise and Flanagan, Sarah (2019). Hyperinsulinaemic Hypoglycaemia: A New Presentation of 16p11.2 Duplication Syndrome. 58th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Vienna, Austria, September 2019. Basel, Switzerland: Karger. |
|
2018 Conference Publication Autonomous thyroid nodule – not just a disease of adulthoodPapadimos, E., Perry, E., Goodwin, B. and Conwell, L. S. (2018). Autonomous thyroid nodule – not just a disease of adulthood. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Newcastle, NSW Australia, July 2018. |
|
2018 Conference Publication Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional finding of pancreatic mosaicism for trisomy 12Conwell, Louise S., Harroway, James, Williams, Mark, Joy, Christopher, Scurry, Bonnie, Lee, Kevin, McBride, Craig, Choo, Kelvin, Huynh, Tony and Ng, Carolyn G. L. (2018). Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional finding of pancreatic mosaicism for trisomy 12. Australasian Paediatric Endocrine Group Annual Scientific Meetings, Newcastle, Australia, July 2018. |
|
2018 Conference Publication Molecular and functional studies in a case of Familial Congenital Hyperinsulinism: co-inheritance of a dominant and recessive ABCC8 mutationConwell, Louise S., Shyng, Show-Ling, Kandasamy, Balamurugan, Wu, Yi and McGown, Ivan (2018). Molecular and functional studies in a case of Familial Congenital Hyperinsulinism: co-inheritance of a dominant and recessive ABCC8 mutation. Australian Functional Genomics Conference, Melbourne, Australia, September 2018. |
|
2017 Conference Publication 46,XX Ovotesticular Disorder of Sex Development (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 Development (DSD):- duplication of the XX SR region upstream of the critical testicular gene SOX9. International Disorders of Sexual Development Conference, Copenhagen, Denmark, 29 June-1 July 2017. Copenhagen, Denmark: I-DSD. |
|
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 |
|
2017 Conference Publication Co-inheritance of dominant and recessive ABCC8 mutations in a case of familial Congenital Hyperinsulinism (CHI):- molecular and functional studiesConwell, Louise S., Shyng, Show-Ling , Kandasamy, Balamurugan , Wu, Yi , McGown, Ivan , Choo, Kelvin and McBride, Craig (2017). Co-inheritance of dominant and recessive ABCC8 mutations in a case of familial Congenital Hyperinsulinism (CHI):- molecular and functional studies. 10th International Meeting of Pediatric Endocrinology, Washington, DC, United States, 14-17 September 2017. |
|
2017 Conference Publication Co-inheritance of dominant and recessive ABCC8 mutations in a case of familial congenital hyperinsulinism:- molecular and functional studiesConwell, Louise S., Shyng, Show-Ling, Kandasamy, Balamurugan, Wu, Yi, McGown, Ivan, Choo, Kelvin and McBride, Craig (2017). Co-inheritance of dominant and recessive ABCC8 mutations in a case of familial congenital hyperinsulinism:- molecular and functional studies. 3rd Annual Children's Health Queensland Research Symposium, Brisbane, Queensland, Australia, 1 November 2017. |
|
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. |
