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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. |
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2019 Journal Article Autonomous thyroid nodule: not just a disease of adulthoodPapadimos, Emily R., Perry, Emily, Goodwin, Bruce and Conwell, Louise S. (2019). Autonomous thyroid nodule: not just a disease of adulthood. Journal of Paediatrics and Child Health, 56 (7) jpc.14734, 1140-1143. doi: 10.1111/jpc.14734 |
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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. |
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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. |
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2018 Journal Article Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicingMaharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J, Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand ... Metherell, Louise A. (2018). Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3 (1), 201-221. doi: 10.1210/js.2018-00130 |
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2018 Journal Article Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): a novel ABCC8 mutation in a previously screened familyJohnson, Stephanie R., Leo, Paul, Conwell, Louise S., Harris, Mark, Brown, Matthew A. and Duncan, Emma L. (2018). Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): a novel ABCC8 mutation in a previously screened family. Journal of Diabetes, 10 (9), 764-767. doi: 10.1111/1753-0407.12778 |
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2018 Journal Article A novel INS mutation in a family with maturity-onset diabetes of the young: variable insulin secretion and putative mechanismsJohnson, Stephanie R., Mcgown, Ivan, Oppermann, Udo, Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2018). A novel INS mutation in a family with maturity-onset diabetes of the young: variable insulin secretion and putative mechanisms. Pediatric Diabetes, 19 (5), 905-909. doi: 10.1111/pedi.12679 |
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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. |
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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. |
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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. |
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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. International Disorders of Sexual Development Conference, Copenhagan, Denmark, 29 June-1 July 2017. Copenhagen, Denmark: I-DSD. |
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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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2017 Conference Publication Early complications of first presentation diabetic ketoacidosis are predicted by severitySharwood, Erin F. and Conwell, Louise S. (2017). Early complications of first presentation diabetic ketoacidosis are predicted by severity. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Hobart , Tasmania, Australia, 26-29 November 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. Royal College of Pathology Australia Update, Sydney, NSW, Australia, 24 – 26 February 2017. |
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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. |
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2017 Conference Publication Turner Syndrome with Ring X Karyotype: Two Cases with Features of the Metabolic Syndrome.Papadimos, Emily R. and Conwell, Louise S. (2017). Turner Syndrome with Ring X Karyotype: Two Cases with Features of the Metabolic Syndrome.. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Hobart , Tasmania, Australia, 26-29 November 2017. |
