Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Suzanna C. Thompson"'
Autor:
Sue Brown, S. Yu, Suzanna C. Thompson, Christopher Barnett, Eric Haan, Jan Liebelt, Lesley M McGregor, Elizabeth Thompson, Kathryn Friend, Sharon M. Bain, Jillian Nicholl, Wendy Waters, Shanna Suwalski, Yvonne Hull, Damian Clark, Claire Pridmore, John Entwistle, Michael G. Harbord, John C. Mulley
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 162:24-35
The clinical significance of chromosomal microdeletions and microduplications was predicted based on their gene content, de novo or familial inheritance and accumulated knowledge recorded on public databases. A patient group comprised of 247 cases wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8c1ac52a6209262e39f35833184568
https://doi.org/10.1002/ajmg.b.32114
https://doi.org/10.1002/ajmg.b.32114
Autor:
Gai L McMichael, Suzanna C. Thompson, Alastair H. MacLennan, Catriona Reynolds, C. L. van Eyk, Shalini N. Jhangiani, Eric Haan, Harshavardhan Doddapaneni, Donna M. Muzny, Richard A. Gibbs, R Russo, David L. Adelson, Jozef Gecz, B W M van Bon, Lam Son Nguyen, Michael O'Callaghan, Mark A. Corbett, Matthew N. Bainbridge, Alison Gardner, Jessica L. Broadbent
Publikováno v:
Molecular Psychiatry, 20, 2, pp. 176-82
Molecular Psychiatry, 20, 176-82
Molecular Psychiatry, 20, 176-82
Contains fulltext : 154458.pdf (Publisher’s version ) (Closed access) Cerebral palsy (CP) is a common, clinically heterogeneous group of disorders affecting movement and posture. Its prevalence has changed little in 50 years and the causes remain l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a20af0ae66eae90cb1ec0abe11548d
https://hdl.handle.net/2066/154458
https://hdl.handle.net/2066/154458
Publikováno v:
Obstetric Anesthesia Digest. 36:185-185
Cerebral palsy (CP) is heterogeneous with different clinical types, comorbidities, brain imaging patterns, causes, and now also heterogeneous underlying genetic variants. Few are solely due to severe hypoxia or ischemia at birth. This common myth has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e080cc7643920b18b0781b13c14812f5
https://doi.org/10.1097/01.aoa.0000504711.51311.45
https://doi.org/10.1097/01.aoa.0000504711.51311.45
Autor:
Alison Gardner, Gai L McMichael, Eric Haan, Russell C. Dale, Alastair H. MacLennan, Jozef Gecz, Tzu Ying Yap, Robert A. Ouvrier, Suzanna C. Thompson
Publikováno v:
European journal of medical genetics. 56(9)
Benign hereditary chorea caused by mutations in the NK2 homeobox 1 gene (NKX2-1), shares clinical features with ataxic and dyskinetic cerebral palsy (CP), resulting in the possibility of misdiagnosis. A father and his two children were considered to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b613f705a2975bcb3d3b75914b7407
https://pubmed.ncbi.nlm.nih.gov/23911641
https://pubmed.ncbi.nlm.nih.gov/23911641
Publikováno v:
American Journal of Obstetrics and Gynecology. 214:671
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69b743a9a54f4ebfdba0d9fead3020d3
https://doi.org/10.1016/j.ajog.2016.01.179
https://doi.org/10.1016/j.ajog.2016.01.179