Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Tessa Mattiske"'
Autor:
Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance
Externí odkaz:
https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14
Autor:
Karagh E. Loring, Tessa Mattiske, Kristie Lee, Aneta Zysk, Matilda R. Jackson, Jeffrey L. Noebels, Cheryl Shoubridge
Publikováno v:
Neurobiology of Disease, Vol 153, Iss , Pp 105329- (2021)
Children with severe intellectual disability have an increased prevalence of refractory seizures. Steroid treatment may improve seizure outcomes, but the mechanism remains unknown. Here we demonstrate that short term, daily delivery of an exogenous s
Externí odkaz:
https://doaj.org/article/235544c8c6c84f93b1147cc49cc216ea
Autor:
Matilda R. Jackson, Kristie Lee, Tessa Mattiske, Emily J. Jaehne, Ezgi Ozturk, Bernhard T. Baune, Terence J. O'Brien, Nigel Jones, Cheryl Shoubridge
Publikováno v:
Neurobiology of Disease, Vol 105, Iss , Pp 245-256 (2017)
The Aristaless-related homeobox gene (ARX) is a known intellectual disability (ID) gene that frequently presents with X-linked infantile spasm syndrome as a comorbidity. ID with epilepsy in children is a chronic and devastating disorder that has poor
Externí odkaz:
https://doaj.org/article/fe487acfa76d44f2a56a861f9de7558a
Autor:
Tessa Mattiske, May H Tan, Oliver Dearsley, Desiree Cloosterman, Charles S Hii, Jozef Gécz, Cheryl Shoubridge
Publikováno v:
PLoS ONE, Vol 13, Iss 11, p e0206914 (2018)
Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in development. Here we identify that ARX protein is phosphorylated. Using mass spectrometry and in vitro kinase assays we identify phos
Externí odkaz:
https://doaj.org/article/afd83dd945e8415ea962bbcf69f12935
Autor:
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L. Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John Pearson, Nicola Waddell, Christopher P. Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gecz, Adam Jaffe, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew J. Mallett, Julie McGaughran, Linda Mileshkin, Katia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard Tothill, Deborah White, Sally Dunwoodie, Peter T. Simpson, Peta Phillips, Marie-Jo Brion, Keri Finlay, Michael CJ. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Sean Murray, Kathy Wells, John Cannings, Andrew H. Sinclair, John Christodoulou, Kathryn N. North
Publikováno v:
The American Journal of Human Genetics. 110:419-426
Refereed/Peer-reviewed Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of
Publikováno v:
Journal of medical genetics.
Approaches to reporting clinically important genetic findings unrelated to the initial test request vary internationally. We sought to investigate practices regarding the management and return of these findings in Australia. Australian clinically acc
Autor:
Aneta Zysk, Tessa Mattiske, Karagh E. Loring, Kristie Lee, Matilda R. Jackson, Cheryl Shoubridge, Jeffrey L. Noebels
Publikováno v:
Neurobiology of Disease, Vol 153, Iss, Pp 105329-(2021)
Children with severe intellectual disability have an increased prevalence of refractory seizures. Steroid treatment may improve seizure outcomes, but the mechanism remains unknown. Here we demonstrate that short term, daily delivery of an exogenous s
Autor:
Luis A. Pérez-Jurado, Julie McGaughran, Cheryl Shoubridge, Oliver Dearsley, Rolph Pfundt, Tessa Mattiske, Joanne Dixon, Alison Gardner, Anneke T. Vulto-van Silfhout, Laura Redpath, Jozef Gecz, Marie Shaw, Monica H. N. Thai
Publikováno v:
Human Mutation, 41, 1407-1424
Human Mutation, 41, 8, pp. 1407-1424
Human Mutation, 41, 8, pp. 1407-1424
Contains fulltext : 225416.pdf (Publisher’s version ) (Closed access) The need to interpret the pathogenicity of novel missense variants of unknown significance identified in the homeodomain of X-chromosome aristaless-related homeobox (ARX) gene pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ed599ab745205231f10c2728aea0a40
https://hdl.handle.net/11541.2/146645
https://hdl.handle.net/11541.2/146645
Autor:
Cheryl Shoubridge, Ezgi Ozturk, Bernhard T. Baune, Terence J. O'Brien, Nigel C. Jones, Emily J. Jaehne, Tessa Mattiske, Matilda R. Jackson, Kristie Lee
Publikováno v:
Neurobiology of Disease, Vol 105, Iss, Pp 245-256 (2017)
The Aristaless-related homeobox gene (ARX) is a known intellectual disability (ID) gene that frequently presents with X-linked infantile spasm syndrome as a comorbidity. ID with epilepsy in children is a chronic and devastating disorder that has poor
Autor:
Charles S. Hii, Tessa Mattiske, Jozef Gecz, Cheryl Shoubridge, Oliver Dearsley, May H. Tan, Desiree Cloosterman
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 11, p e0206914 (2018)
PLoS ONE, Vol 13, Iss 11, p e0206914 (2018)
Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in development. Here we identify that ARX protein is phosphorylated. Using mass spectrometry and in vitro kinase assays we identify phos