Zobrazeno 1 - 10
of 294
pro vyhledávání: '"Jeremy A. Freeman"'
Autor:
Timothy E. Green, Mark F. Bennett, Ilka Immisch, Jeremy L. Freeman, Karl Martin Klein, John F. Kerrigan, Lata Vadlamudi, Erin L. Heinzen, Ingrid E. Scheffer, A. Simon Harvey, Felix Rosenow, Michael S. Hildebrand, Samuel F. Berkovic
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100810- (2023)
Purpose: Hypothalamic hamartoma (HH) can be syndromic (eg, Pallister-Hall syndrome [PHS], HH, and mesoaxial polydactyly) or nonsyndromic. Most PHS cases have germline variants in GLI3, but a minority remain unresolved. Some nonsyndromic HH cases have
Externí odkaz:
https://doaj.org/article/939d0ee271c64f53839c1bf55c7c6650
Autor:
Daniel J. Lee, David Forner, Christopher End, Christopher M. K. L. Yao, Shireen Samargandy, Eric Monteiro, Ian J. Witterick, Jeremy L. Freeman
Publikováno v:
Journal of Otolaryngology - Head and Neck Surgery, Vol 50, Iss 1, Pp 1-6 (2021)
Abstract Background Superficial parotidectomy has a potential to be performed as an outpatient procedure. The objective of the study is to evaluate the safety and selection profile of outpatient superficial parotidectomy compared to inpatient parotid
Externí odkaz:
https://doaj.org/article/bda00b6704044ed8a2cddd98a69d0bd6
Autor:
Carolyn Bursle, Eppie M. Yiu, Alison Yeung, Jeremy L. Freeman, Chloe Stutterd, Richard J. Leventer, Adeline Vanderver, Joy Yaplito‐Lee
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)
Abstract We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic hypoglycaemia. To our knowledge, this association has not been described previously. Both patients had compound
Externí odkaz:
https://doaj.org/article/409271ae6f594e76bb062158b9a17b88
Autor:
Justine Philteos, Elif Baran, Christopher W. Noel, Jesse D. Pasternak, Kevin M. Higgins, Jeremy L. Freeman, Albino Chiodo, Antoine Eskander
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
BackgroundOutpatient thyroid surgery is gaining popularity as it can reduce length of hospital stay, decrease costs of care, and increase patient satisfaction. There remains a significant variation in the use of this practice including a perceived kn
Externí odkaz:
https://doaj.org/article/33d19df7b7fe4fc194f87e96784d0b30
Autor:
Tyson L. Ware, Shannon R. Huskins, Bronwyn E. Grinton, Yu‐Chi Liu, Mark F. Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos‐Malikotsinas, Melanie Bahlo, Katherine B. Howell, Michael S. Hildebrand, John A. Damiano, Alexander Rosenfeld, Mark T. Mackay, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Jeremy L. Freeman, Ingrid E. Scheffer, Dean L. Jones, Samuel F. Berkovic
Publikováno v:
Epilepsia Open, Vol 4, Iss 3, Pp 504-510 (2019)
Abstract We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephalopathies (DEEs) in a population isolate, with an intensive multistage approach. Infants born in Tasmania betwee
Externí odkaz:
https://doaj.org/article/9380e8af0ae643929c694264aa7cbbd3
Autor:
Sharmila Kiss, John Christodoulou, David R. Thorburn, Jeremy L. Freeman, Andrew J. Kornberg, Simone Mandelstam, Alison G. Compton, Beryl Cummings, Lynn Pais, Joy Yaplito‐Lee, Susan M. White
Publikováno v:
American Journal of Medical Genetics Part A. 191:1599-1606
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f473b2026226c74e775137fc15a02b8
https://doi.org/10.1002/ajmg.a.63170
https://doi.org/10.1002/ajmg.a.63170
Autor:
Katherine J Lee, Katrina Williams, Noel Cranswick, Daryl Efron, Jonathan M Payne, Melissa Mulraney, Kaitlyn Taylor, Jeremy L Freeman, Chidambaram Prakash
Publikováno v:
BMJ Open, Vol 10, Iss 3 (2020)
IntroductionSevere behavioural problems (SBPs) are a common contributor to morbidity and reduced quality of life in children with intellectual disability (ID). Current medication treatment for SBP is associated with a high risk of side effects. Innov
Externí odkaz:
https://doaj.org/article/a595fc5eb7e24e5aa8af83e2a285acfb
Autor:
Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldstein, John F Kerrigan, Erin L Heinzen, Samuel F Berkovic, Michael S Hildebrand
Publikováno v:
Hum Mol Genet
Hypothalamic hamartoma with gelastic seizures is a well-established cause of drug-resistant epilepsy in early life. The development of novel surgical techniques has permitted the genomic interrogation of hypothalamic hamartoma tissue. This has reveal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c335523fad181bfe5a044bcac20cd8e
https://doi.org/10.1093/hmg/ddab366
https://doi.org/10.1093/hmg/ddab366
Autor:
Kristina B. Kooiker, Saffie Mohran, Kyrah L. Turner, Weikang Ma, Galina Flint, Lin Qi, Chengqian Gao, Yahan Zheng, Timothy S McMillen, Christian Mandrycky, Amy Martinson, Max Mahoney-Schaefer, Jeremy C. Freeman, Elijah Gabriela Costales Arenas, An-Yu Tu, Thomas C. Irving, Michael A. Geeves, Bertrand C.W. Tanner, Michael Regnier, Jennifer Davis, Farid Moussavi-Harami
Publikováno v:
bioRxiv
Modulating myosin function is a novel therapeutic approach in patients with cardiomyopathy. Detailed mechanism of action of these agents can help predict potential unwanted affects and identify patient populations that can benefit most from them. Dan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f481be9f2ba5b7761fa7775d80b74f8c
https://doi.org/10.1101/2023.01.31.526380
https://doi.org/10.1101/2023.01.31.526380
Autor:
Catherine A Bailey, Jeremy L. Freeman, Simone Mandelstam, M. Kean, Graeme D. Jackson, Andrew Davidson, Kate Pope, Wirginia J. Maixner, Emma Macdonald-Laurs, Duncan MacGregor, Colleen D'Arcy, Richard J. Leventer, Aaron E. L. Warren, Peter Francis, Joseph Yuan-Mou Yang, Sarah Barton, Jacquie Wrennall, Alison Wray, A. Simon Harvey
Publikováno v:
Neurology. 97:e178-e190
ObjectiveTo determine whether 1-stage, limited corticectomy controls seizures in patients with MRI-positive, bottom-of-sulcus dysplasia (BOSD).MethodsWe reviewed clinical, neuroimaging, electrocorticography (ECoG), operative, and histopathology findi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117f47b4369ed49c898b2a754b18ad79
https://doi.org/10.1212/wnl.0000000000012147
https://doi.org/10.1212/wnl.0000000000012147