Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Ian, Hayes"'
Autor:
Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-13 (2018)
Abstract Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with a population frequency of approximately 1 in 10,000. The most common epigenetic defect in BWS is a loss of methylation (LOM) at the 11p15.5 imprinting centre, KCNQ1O
Externí odkaz:
https://doaj.org/article/ec81829129324b9a8a4e10b98c5eb320
Autor:
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner, Cardiac Inherited Disease Group New Zealand
Publikováno v:
PLoS ONE, Vol 13, Iss 4, p e0196078 (2018)
To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand.Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive fam
Externí odkaz:
https://doaj.org/article/84585226c26443e28f6195b4699136ca
Publikováno v:
ANZ Journal of Surgery. 92:2744-2746
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a518c956bb17d529b5955c8ecfcbf1f9
https://doi.org/10.1111/ans.17511
https://doi.org/10.1111/ans.17511
Publikováno v:
ANZ journal of surgeryReferences. 92(11)
Social disparities in cancer survival have been demonstrated in Australia despite a universal healthcare insurance system. Colorectal cancer is common, and reasons for survival disparities related to socioeconomic status need to be investigated and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d6e3bdd72fb696aa8eb1df6b7d2b514
https://pubmed.ncbi.nlm.nih.gov/36189982
https://pubmed.ncbi.nlm.nih.gov/36189982
Autor:
Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, Peer Arts, Richard Bagnall, Naomi L. Baker, Christopher Barnett, Sarah Beecroft, Marina Berbic, Michael Black, Jim Blackburn, Piers Blombery, Susan Branford, Jimmy Breen, Leslie Burnett, Daffodil Canson, Pak Cheong, Edward Chew, John Christodoulou, Seo-Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison Compton, Antony Cooper, Mark Corbett, Mark Cowley, Tracy Dudding, Stefanie Eggers, Eduardo Eyras, Miriam Fanjul Fernandez, Andrew Fellowes, Ron Fleischer, Chiara Folland, Lucy Fox, Clara Gaff, Melanie Galea, Roula Ghaoui, Ilias Gornanitis, Thuong Ha, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke Hesson, Erin Heyer, Michael Hildebrand, Michael Hipwell, Cass Hoskins, Matilda Jackson, Paul James, Justin Jong-Leong Wong, Karin Kassahn, Peter Kaub, Lucy Kevin, Smitha Kumble, Sarah Kummerfeld, Nigel Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, Julie McGaughran, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Kym Mina, Amy Nisselle, Emily Oates, Alicia Oshlack, Gayathri Parasivam, Michael Parsons, Michael Quinn, John Rasko, Gina Ravenscroft, Anja Ravine, Krista Recsei, Jacqueline Rehn, Stephen Robertson, Anne Ronan, Georgina Ryland, Simon Sadedin, Andreas Schreiber, Hamish Scott, Rodney Scott, Christopher Semsarian, Cas Simons, Emma Singer, Renee Smyth, Amanda Spurdle, Patricia Sullivan, Samantha Sundercombe, David Thorburn, John Toubia, Ronald Trent, Emma Tudini, Irina Voneague, Leigh Waddell, Logan Walker, Mathew Wallis, Nick Warnock, Robert Weatheritt, Deborah White, Ingrid Winship, Lisa Worgan, Kathy Wu, Andrew Ziolowski
usc Refereed/Peer-reviewed Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e89d7bfd7ca0514671d5a9885197b140
https://hdl.handle.net/11541.2/34507
https://hdl.handle.net/11541.2/34507
Publikováno v:
Clinical Genetics. 102:461-462
PPP1R13L-associated cardiocutaneous syndrome is an autosomal recessive condition that presents with life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f3d42f37b83864319095e31306dc44
https://doi.org/10.1111/cge.14199
https://doi.org/10.1111/cge.14199
Publikováno v:
ANZ Journal of Surgery. 93:720-721
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2e5b3bc866775a6f342d0c800f06094
https://doi.org/10.1111/ans.17924
https://doi.org/10.1111/ans.17924
Autor:
Adrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, Warwick Smith, Ian Hayes, Alice M. George, Donald R. Love
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with b
Externí odkaz:
https://doaj.org/article/828080e7bf57431289d3caffc7408dbc
Autor:
Victoria E. Jackson, Julie McGaughran, David J. Amor, Olivia van Reyk, Michael S. Hildebrand, Gopinath M. Subramanian, Himanshu Goel, Bryony Beal, Ian Hayes, Christina Miteff, Angela T Morgan
Publikováno v:
Clinical Dysmorphology. 28:169-174
Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70104fc8b481657d505c14b41b5bbe93
https://doi.org/10.1097/mcd.0000000000000289
https://doi.org/10.1097/mcd.0000000000000289
Autor:
Hyunsoo Kim, Tristin Metz, Shanta Saha, Nicholas P. Butch, Sheng Ran, Yun Suk Eo, I-Lin Liu, Johnpierre Paglione, Ian Hayes
Publikováno v:
Phys Rev B
Spin triplet superconductivity in the Kondo lattice ${\mathrm{UTe}}_{2}$ appears to be associated with spin fluctuations originating from incipient ferromagnetic order. Here we show clear evidence of twofold enhancement of superconductivity under pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f168dc2e4aa92cda3b6acc6bc853f32
https://doi.org/10.1103/physrevb.101.140503
https://doi.org/10.1103/physrevb.101.140503