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2016 Journal Article Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortEggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A., Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M., Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa ... Sinclair, Andrew H. (2016). Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biology, 17 (1) 243, 243. doi: 10.1186/s13059-016-1105-y |
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2016 Conference Publication Insulin autoimmune syndrome in a child with type 1 diabetes: clinical, immunological, and biochemical correlationsSharwood, Erin, Gous, Rehna, Cardinal, John, Hughes, Ian and Huynh, Tony (2016). Insulin autoimmune syndrome in a child with type 1 diabetes: clinical, immunological, and biochemical correlations. Endocrine Society's 98th Annual Meeting and Expo, Boston, MA United States, 1-4 April. London, United Kingdom: Lippincott Williams & Wilkins. doi: 10.1016/j.pathol.2015.12.247 |
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2013 Journal Article Selective modulation through the glucocorticoid receptor ameliorates muscle pathology in mdx miceHuynh, Tony, Uaesoontrachoon, Kitipong, Quinn, James L., Tatem, Kathleen S., Heier, Christopher R., Van Der Meulen, Jack H., Yu, Qing, Harris, Mark, Nolan, Christopher J., Haegeman, Guy, Grounds, Miranda D. and Nagaraju, Kanneboyina (2013). Selective modulation through the glucocorticoid receptor ameliorates muscle pathology in mdx mice. Journal of Pathology, 231 (2), 223-235. doi: 10.1002/path.4231 |
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2013 Journal Article Omigapil Treatment Decreases Fibrosis and Improves Respiratory Rate in dy2J Mouse Model of Congenital Muscular DystrophyYu, Qing, Sali, Arpana, van der Meulen, Jack, Creeden, Brittany K., Gordish-Dressman, Heather, Rutkowski, Anne, Rayavarapu, Sree, Uaesoontrachoon, Kitipong, Huynh, Tony, Nagaraju, Kanneboyina and Spurney, Christopher F. (2013). Omigapil Treatment Decreases Fibrosis and Improves Respiratory Rate in dy2J Mouse Model of Congenital Muscular Dystrophy. PLoS One, 8 (6) e65468, e65468.1-e65468.8. doi: 10.1371/journal.pone.0065468 |
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2013 Journal Article VBP15, a Glucocorticoid Analogue, Is Effective at Reducing Allergic Lung Inflammation in MiceDamsker, Jesse M., Dillingham, Blythe C., Rose, Mary C., Balsley, Molly A., Heier, Christopher R., Watson, Alan M., Stemmy, Erik J., Jurjus, Roslyn A., Huynh, Tony, Tatem, Kathleen, Uaesoontrachoon, Kitipong, Berry, Dana M., Benton, Angela S., Freishtat, Robert J., Hoffman, Eric P., McCall, John M., Gordish-Dressman, Heather, Constant, Stephanie L., Reeves, Erica K. M. and Nagaraju, Kanneboyina (2013). VBP15, a Glucocorticoid Analogue, Is Effective at Reducing Allergic Lung Inflammation in Mice. PLoS One, 8 (5) e63871, e63871.1-e63871.9. doi: 10.1371/journal.pone.0063871 |
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2013 Journal Article Urine metabonomic profiling of a female adolescent with PIT-1 mutation before and during growth hormone therapy: insights into the metabolic effects of growth hormoneAbd Rahman, Shaffinaz, Schirra, Horst Joachim, Lichanska, Agnieszka M., Huynh, Tony and Leong, Gary M. (2013). Urine metabonomic profiling of a female adolescent with PIT-1 mutation before and during growth hormone therapy: insights into the metabolic effects of growth hormone. Growth Hormone & IGF Research, 23 (1-2), 29-36. doi: 10.1016/j.ghir.2012.12.001 |
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2013 Conference Publication Blocking Toll-Like Receptor Pathway Using an Antagonist of TLR7, 8 and 9 Reduces Inflammation in Dystrophin Deficient mdx MiceYu, Qing, Huynh, Tony, Sali, Arpana, Creeden, Brittany, Quinn, James, Vandermeulen, Jack, Spurney, Chris, Kandimalla, Ekambar, Agrawal, Sudhir and Nagaraju, Kanneboyina (2013). Blocking Toll-Like Receptor Pathway Using an Antagonist of TLR7, 8 and 9 Reduces Inflammation in Dystrophin Deficient mdx Mice. 65th Annual Meeting of the American-Academy-of-Neurology (AAN), San Diego Ca, Mar 16-23, 2013. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. |
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2013 Journal Article Effects of Dantrolene therapy on disease phenotype in Dystrophin deficient mdx miceQuinn, James L., Huynh, Tony, Uaesoontrachoon, Kitipong, Tatem, Kathleen, Phadke, Aditi, Van der Meulen, Jack H., Yu, Qing and Nagaraju, Kannaboyina (2013). Effects of Dantrolene therapy on disease phenotype in Dystrophin deficient mdx mice. PLoS Currents (NOV). doi: 10.1371/currents.md.e246cf493a7edb1669f42fb735936b46 |
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2013 Journal Article VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effectsHeier, Christopher R., Damsker, Jesse M., Yu, Qing, Dillingham, Blythe C., Huynh, Tony, Van der Meulen, Jack H., Sali, Arpana, Miller, Brittany K., Phadke, Aditi, Scheffer, Luana, Quinn, James, Tatem, Kathleen, Jordan, Sarah, Dadgar, Sherry, Rodriguez, Olga C., Albanese, Chris, Calhoun, Michael, Gordish-Dressman, Heather, Jaiswal, Jyoti K., Connor, Edward M., Mccall, John M., Hoffman, Eric P., Reeves, Eric K. M. and Nagaraju, Kanneboyina (2013). VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects. EMBO Molecular Medicine, 5 (10), 1569-1585. doi: 10.1002/emmm.201302621 |
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2013 Journal Article The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: Role of endogenous TLR ligandsUaesoontrachoon, Kitipong, Cha, Hee-Jae, Ampong, Beryl, Sali, Arpana, Vandermeulen, Jack, Wei, Benjamin, Creeden, Brittany, Huynh, Tony, Quinn, James, Tatem, Kathleen, Rayavarapu, Sree, Hoffman, Eric P. and Nagaraju, Kanneboyina (2013). The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: Role of endogenous TLR ligands. Journal of Pathology, 231 (2), 199-209. doi: 10.1002/path.4207 |
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2009 Journal Article Benefit of early commencement of growth hormone therapy in children with Prader-Willi syndromeNyunt, O., Harris, M., Hughes, I., Huynh, T., Davies, P. S. W. and Cotterill, A. M. (2009). Benefit of early commencement of growth hormone therapy in children with Prader-Willi syndrome. Journal of Pediatric Endocrinology and Metabolism, 22 (12), 1151-1158. doi: 10.1515/JPEM.2009.22.12.1151 |
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2009 Journal Article Investigating maturity onset diabetes of the youngNyunt, Ohn, Wu, Joyce Y, McGown, Ivan N, Harris, Mark, Huynh, Tony, Leong, Gary M, Cowley, David M and Cotterill, Andrew M (2009). Investigating maturity onset diabetes of the young. Clinical Biochemist Reviews, 30 (2), 67-74. |
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2009 Journal Article The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiencyHuynh, Tony, McGown, Ivan, Cowley, David, Nyunt, Ohn, Leong, Gary M., Harris, Mark and Cotterill, Andrew M. (2009). The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clinical Biochemist Reviews, 30 (2), 75-86. |
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2009 Conference Publication A selective glucocorticoid receptor modulator improves muscle function in a mouse model for Duchenne muscular dystrophyHuynh, Tony, Trebbin, Andrea, Cowley, David, Bowling, Francis, Leong, Gary M., Cotterill, Andrew M., Harris, Mark, De Bosscher, Karolien, Haegeman, Guy and Hoey, Andrew J. (2009). A selective glucocorticoid receptor modulator improves muscle function in a mouse model for Duchenne muscular dystrophy. BASEL: KARGER. |
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2009 Journal Article The association between ketoacidosis and 25(OH)-vitamin D-3 levels at presentation in children with type 1 diabetes mellitusHuynh, Tony, Greer, Ristan M., Nyunt, Ohn, Bowling, Francis, Cowley, David, Leong, Gary M., Cotterill, Andrew M. and Harris, Mark (2009). The association between ketoacidosis and 25(OH)-vitamin D-3 levels at presentation in children with type 1 diabetes mellitus. Pediatric Diabetes, 10 (1), 38-43. doi: 10.1111/j.1399-5448.2008.00439.x |
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2009 Journal Article A novel V185DfsX4 mutation of the AAAS gene in a 2-year-old boy with Triple A SyndromeCotterill, A. M., Cowley, D., Harris, M., Huynh, T., Leong, G. M., McGown, I. and Nyunt, O. (2009). A novel V185DfsX4 mutation of the AAAS gene in a 2-year-old boy with Triple A Syndrome. Clinical Pediatric Endocrinology, 18 (2), 73-75. doi: 10.1297/cpe.18.73 |
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2009 Conference Publication Congenital adrenal hyperplasia genotyping strategy using MLPA and DNA sequencing: an Australian cohortHuynh, Tony, McGown, Ivan, Cowley, David, Harris, Mark, Leong, Gary M. and Cotterill, Andrew M. (2009). Congenital adrenal hyperplasia genotyping strategy using MLPA and DNA sequencing: an Australian cohort. BASEL: KARGER. |
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2008 Conference Publication Hyperinsulinism of infancy associated with a novel paternally inherited alteration in the KCNJ11 geneCotterill, A. M., Cowley, D., Dahiya, R., Greer, R. M., Harris, M., Huynh, T., Leong, G., McGown, I., Nyunt, O., Venter, D. J. and Walker, R. (2008). Hyperinsulinism of infancy associated with a novel paternally inherited alteration in the KCNJ11 gene. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Canberra, ACT, Australia, 17-19 November 2008. |
