Zobrazeno 1 - 10
of 66
pro vyhledávání: '"A. M. E. Bye"'
Autor:
Elizabeth E. Palmer, Brittany C. McGill, Ann M. E. Bye, Kristine Barlow-Stewart, Claire E. Wakefield, Suzanne M. Nevin
Publikováno v:
Developmental Medicine & Child Neurology. 64:95-104
Autor:
Velimir Gayevskiy, Peter Ian Andrews, Rani Sachdev, Sarah K. Kummerfeld, Tony Roscioli, John A. Lawson, Edwin P. Kirk, Uirá Souto Melo, Sarah Righetti, Senel Idrisoglu, Monica Hong Ngoc Thai, Marcel E. Dinger, Alexander P. Drew, Rebecca Macintosh, Tejaswi Kandula, André E. Minoche, Ann M. E. Bye, Hugo Sampaio, Clare Puttick, Michael Cardamone, Cheryl Shoubridge, Luke B. Hesson, Alison Colley, Elizabeth E. Palmer, Stefan Mundlos, Mark J. Cowley, David Mowat, Ryan L. Davis
Publikováno v:
Neurology. 96:e1770-e1782
ObjectiveTo assess the benefits and limitations of whole genome sequencing (WGS) compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis of developmental and epileptic encephalopathies (DEE).MethodsWe performed WGS of 30
Autor:
Cédric Le Caignec, Fiona Haslam McKenzie, Jozef Gecz, Erik C. Thorland, Michelle Ward, Sharron Townshend, Chris Troedson, Marybeth Hummel, Andre E. Minoche, Raman Kumar, Elizabeth E. Palmer, Rebecca Macintosh, Joris Andrieux, Mark J. Cowley, Olivier Pichon, Edwin P. Kirk, Anja Ravine, Bénédicte Demeer, Dale Wright, Marie Shaw, Ann M. E. Bye, Nicola Foulds, Lucinda Murray, Melanie Leffler, Rani Sachdev, Cassandra K. Runke, Renee Carroll, Bertrand Isidor, Urwah Nawaz, Michael Field, Salam Hadah Albarazi
Publikováno v:
Am J Hum Genet
Interpretation of the significance of maternally inherited X chromosome variants in males with neurocognitive phenotypes continues to present a challenge to clinical geneticists and diagnostic laboratories. Here we report 14 males from 9 families wit
Autor:
Ann M. E. Bye, Adam Jaffe, Donna Drew, Elizabeth E. Palmer, Claire E. Wakefield, Sean E. Kennedy, Chee Y. Ooi, Sandra De Marchi, Lauren Kelada
Publikováno v:
Journal of child health care : for professionals working with children in the hospital and community. 26(4)
Siblings of young people with chronic illness commonly undertake caring responsibilities for their affected brother/sister, which may encourage maturation, yet may also be perceived as a burden. Our study determined (1) siblings’ caring responsibil
Publikováno v:
Journal of Clinical Neuroscience. 50:214-220
The study aimed to comprehensively evaluate a mobile application (EpApp), designed with stakeholder input, to educate and facilitate management of adolescents with epilepsy. A prospective cohort of adolescents with epilepsy (13–19 years) and their
Autor:
Garrett D. Sheehan, Ann M. E. Bye, Ying Zhu, Kerith-Rae Dias, Elizabeth E. Palmer, Edwin P. Kirk, Kevin Ying, Mark J. Cowley, Sushmitha Gururaj, Tejaswi Kandula, Tony Roscioli, Marcel E. Dinger, Arin Bhattacharjee, Jiang Tao, Rebecca Macintosh, Paula Morris, Rani Sachdev, Michael E. Duffey
Publikováno v:
Cell Reports, Vol 21, Iss 4, Pp 926-933 (2017)
Summary: Early infantile epileptic encephalopathies (EOEE) are a debilitating spectrum of disorders associated with cognitive impairments. We present a clinical report of a KCNT2 mutation in an EOEE patient. The de novo heterozygous variant Phe240Leu
Autor:
Simona, Balestrini, Mohamad A, Mikati, Reyes, Álvarez-García-Rovés, Michael, Carboni, Arsen S, Hunanyan, Bassil, Kherallah, Melissa, McLean, Lyndsey, Prange, Elisa, De Grandis, Alessandra, Gagliardi, Livia, Pisciotta, Michela, Stagnaro, Edvige, Veneselli, Jaume, Campistol, Carmen, Fons, Leticia, Pias-Peleteiro, Allison, Brashear, Charlotte, Miller, Raquel, Samões, Vesna, Brankovic, Quasar S, Padiath, Ana, Potic, Jacek, Pilch, Aikaterini, Vezyroglou, Ann M E, Bye, Andrew M, Davis, Monique M, Ryan, Christopher, Semsarian, Georgina, Hollingsworth, Ingrid E, Scheffer, Tiziana, Granata, Nardo, Nardocci, Francesca, Ragona, Alexis, Arzimanoglou, Eleni, Panagiotakaki, Inês, Carrilho, Claudio, Zucca, Jan, Novy, Karolina, Dzieżyc, Marek, Parowicz, Maria, Mazurkiewicz-Bełdzińska, Sarah, Weckhuysen, Roser, Pons, Sergiu, Groppa, Daniel S, Sinden, Geoffrey S, Pitt, Andrew, Tinker, Michael, Ashworth, Zuzanna, Michalak, Maria, Thom, J Helen, Cross, Rosaria, Vavassori, Juan P, Kaski, Sanjay M, Sisodiya
Publikováno v:
Neurology
article-version (Version of Record) 3
article-version (Version of Record) 3
Objective To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. Methods Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cer
Autor:
Surbhi Rikhi, Fleur A Le Marne, Arjun Rao, Natalie Deuble, Kate Sinclair, Michelle S Lorentzos, Michaela Waak, Ann M. E. Bye, Kylie-Ann Mallitt, Eleanor W M Ng, Thomas Georgeson
Publikováno v:
Journal of paediatrics and child healthReferences. 57(2)
Aim: The aim was to evaluate an educational video in educating doctors on the key messages and follow-up pathways following a first afebrile seizure presentation. A multidisciplinary expert team developed the video (http://www.pennsw.org.au/families/
Autor:
Tejaswi Kandula, Maria J. Guillen Sacoto, Mais Hashem, Saima Kayani, André E. Minoche, Edwin P. Kirk, Łukasz Jaremko, Heba M. Jalal Ahmed, Marwan Shinawi, Elizabeth E. Palmer, Christel Thauvin, Molly Snyder, Mark J. Cowley, Muddathir H Hamad, Maria Mercedes Villanueva, Seungbeom Hong, Fatema Al Zahrani, Laurence Faivre, Suliat F. Yakubu, Ann M. E. Bye, Velimir Gayevskiy, Megan T. Cho, Jasmeen S. Merzaban, Marisa V. Andrews, Alexander P. Drew, Ruth E. Bristol, Jill A. Rosenfeld, Stefan T. Arold, Lindsay B. Henderson, Antonio Vitobello, Tony Roscioli, Clare Puttick, Mariusz Jaremko, Rui Xiao, Fajr A. Aleisa, Amber Begtrup, Marilyn C. Jones, Fowzan S. Alkuraya, Rebecca Macintosh, Marcel E. Dinger, Kristin Lindstrom, Rani Sachdev, Angeles Schteinschnaider
Publikováno v:
American journal of human genetics, vol 104, iss 3
Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function. We present detailed phenotypic i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db127783b1fb1ce2a655ab86e5d0fed4
https://europepmc.org/articles/PMC6407605/
https://europepmc.org/articles/PMC6407605/
Autor:
Shirleen Balbir Singh, Rob Slade, Michael Cardamone, Hannah McGinness, Fleur A Le Marne, Anne M. Connolly, Ann M. E. Bye
Publikováno v:
Journal of Paediatrics and Child Health. 52:896-900
Aim To develop and evaluate an online educational package instructing paediatricians and trainees in the diagnosis and management of a first unprovoked seizure in children. Methods The E-learning content was created following a comprehensive literatu