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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. |
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2017 Conference Publication Antenatally determined sesquizygosity in gender discordant monochorionic diammniotic twins (46,XX/46XY):- 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 diammniotic twins (46,XX/46XY):- postnatal clinical and gonadal phenotype. 3rd Annual Children's Health Queensland Research Symposium, Brisbane, Queensland, Australia, 1 November 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 SOX9.Conwell, 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.. 10th International Meeting of Pediatric Endocrinology, Washington, United States, 14-17 September 2017. |
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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. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Hobart, Tasmania, Australia, 26-29 November 2017. |
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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 L. and Mcbride, Craig A. (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. Basel, Switzerland: S. Karger AG. |
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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. |
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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. |
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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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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. |
