Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Anne Baxter"'
Autor:
Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell
Publikováno v:
BMC Biotechnology, Vol 17, Iss 1, Pp 1-9 (2017)
Abstract Background Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of indivi
Externí odkaz:
https://doaj.org/article/f41c018183714148aa26ab2316eab2a5
Autor:
Meaghan Wall, David Francis, Ingrid Scheffer, Tiong Tan, Krithika Murali, Lyndon Gallacher, David Amor, Himanshu Goel, Lilian Downie, Chloe Stutterd, Emma Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7e2ff231cc0fa05211200d18443e101
https://doi.org/10.21203/rs.3.rs-2041176/v1
https://doi.org/10.21203/rs.3.rs-2041176/v1
Autor:
David I. Francis, Zornitza Stark, Ingrid E. Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J. Amor, Himanshu Goel, Lilian Downie, Chloe A. Stutterd, Emma I. Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L. Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
Publikováno v:
European journal of human genetics : EJHG.
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and
Autor:
Sheena Reilly, Kerryn Saunders, Frédérique Liégeois, David Coman, Michael S. Hildebrand, Jozef Gecz, Himanshu Goel, Martin B. Delatycki, Melanie Bahlo, Ingrid E. Scheffer, Anne Baxter, Samantha J. Turner, Kristin A Rigbye, Michael Hayman, Alan Connelly, Sarah Barton, Matthew Coleman, Georgia A Paxton, Michael C Fahey, Simon E. Fisher, Ruth O Braden, David J. Amor, Thomas S. Scerri, Olivia van Reyk, Victoria E. Jackson, Amber Boys, Noni M Davis, Richard D. Webster, Bronwyn Parry-Fielder, Angela T Morgan, Alan Ma
Publikováno v:
Neurology, 94, 20, pp. e2148-e2167
Neurology, 94, e2148-e2167
Neurology
Neurology, 94, e2148-e2167
Neurology
ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained.
Autor:
Ingrid E. Scheffer, Jennifer L. Johnson, Hyung-Goo Kim, Michael S. Hildebrand, Ping Jun Zhu, Penelope E. Bonnen, Amanda Brignell, Christine Beeton, Victoria E. Jackson, Abhisek Bhattacharya, N. Tony Eissa, Urwah Nawaz, Yuwei Liu, Redwan Huq, Thomas S. Scerri, Loredana Stoica, Melanie Bahlo, Bo T. Porse, Renee Carroll, Jozef Gecz, Matthew Coleman, Usha Kini, Deepti Domingo, Ola Larsson, Anne Baxter, David J. Amor, Lachlan A. Jolly, Shelly A. Buffington, Mauro Costa-Mattioli, Ruth O Braden, Angela T Morgan
Publikováno v:
Johnson, J L, Stoica, L, Liu, Y, Zhu, P J, Bhattacharya, A, Buffington, S, Huq, R, Eissa, N T, Larsson, O, Porse, B T, Domingo, D, Nawaz, U, Carroll, R, Jolly, L, Scerri, T S, Kim, H-G, Brignell, A, Coleman, M J, Braden, R, Kini, U, Jackson, V, Baxter, A, Bahlo, M, Scheffer, I E, Amor, D J, Hildebrand, M S, Bonnen, P E, Beeton, C, Gecz, J, Morgan, A T & Costa-Mattioli, M 2019, ' Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response ', Neuron, vol. 104, no. 4, pp. 665-679 . https://doi.org/10.1016/j.neuron.2019.08.027
Neuron
Neuron
In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism spectrum disorder and intellectual disability. However, the mechanism by which deficient NMD leads to neurodevelopmenta
Autor:
Sheridan O'Donnell, Bert B.A. de Vries, John Attia, Han G. Brunner, Brian C. Lovell, Carlos Riveros, Tjitske Kleefstra, Steve Brain, Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, David A. Koolen, Seshika Ratwatte, Anna Hackett, Susan M. White
Publikováno v:
BMC Biotechnology, 17
BMC Biotechnology
BMC Biotechnology, 17:90. BioMed Central Ltd
BMC Biotechnology, Vol 17, Iss 1, Pp 1-9 (2017)
BMC Biotechnology
BMC Biotechnology, 17:90. BioMed Central Ltd
BMC Biotechnology, Vol 17, Iss 1, Pp 1-9 (2017)
Background Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f76865b0c11721afc9c84cd05518d747
http://hdl.handle.net/2066/181608
http://hdl.handle.net/2066/181608
Autor:
Peter Westervelt, Thomas B. Shea, Luis Isola, Asad Bashey, Lee Anne Baxter-Lowe, Jeffrey L. Johnson, Kouros Owzar, John M. McCarty, Charles A. Linker, Sherif S. Farag, Michael Kelly
Publikováno v:
Biology of Blood and Marrow Transplantation. 17:1395-1403
Cancer and Leukemia Group B conducted a phase II study to evaluate the safety and efficacy of a reduced-intensity conditioning regimen with allogeneic transplantation to treat patients with recurrent low-grade B cell malignancies. Patients over age 1
Publikováno v:
Scopus-Elsevier
We agree with Drummond and colleagues that much of the evidence cited in the recent National Institute for Health and Care Excellence stroke rehabilitation guidelines was low level,1 2 despite high level evidence being …