Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Dawn O'Sullivan"'
Autor:
Shona M. Kerr, Emma Cowan, Lucija Klaric, Christine Bell, Dawn O’Sullivan, David Buchanan, Joseph J. Grzymski, Cristopher V. van Hout, Gannie Tzoneva, Alan R. Shuldiner, James F. Wilson, Zosia Miedzybrodzka
Publikováno v:
Kerr, S, Cowan, E, Klaric, L, Bell, C, O'Sullivan, D, Buchanan, D, Grzymski, J J, van Hout, C V, Tzoneva, G, Shuldiner, A R, Wilson, J F & Miedzybrodzka, Z 2023, ' Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians ', European Journal of Human Genetics, vol. 31, no. 5, pp. 588–595 . https://doi.org/10.1038/s41431-023-01297-w
We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. We sought to investigate the frequency
Autor:
Lynne J, Hocking, Claire, Andrews, Christine, Armstrong, Morad, Ansari, David, Baty, Jonathan, Berg, Therese, Bradley, Caroline, Clark, Austin, Diamond, Jill, Doherty, Anne, Lampe, Ruth, McGowan, David J, Moore, Dawn, O'Sullivan, Andrew, Purvis, Javier, Santoyo-Lopez, Paul, Westwood, Michael, Abbott, Nicola, Williams, Timothy J, Aitman, Margo, Whiteford
Publikováno v:
Hocking, L J, Andrews, C, Armstrong, C, Ansari, M, Baty, D, Berg, J, Bradley, T, Clark, C, Diamond, A, Doherty, J, Lampe, A, McGowan, R, Moore, D J, O'Sullivan, D, Purvis, A, Santoyo-Lopez, J, Westwood, P, Abbott, M, Williams, N & Aitman, T J & Miedzybrodzka, Z 2022, ' Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing ', European Journal of Human Genetics, vol. 31 . https://doi.org/10.1038/s41431-022-01226-3
NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing for in rare, inherited conditions. Four regional services recruited 999 individuals from 394 families
Autor:
Shona M. Kerr, Emma Cowan, Lucija Klaric, Christine Bell, Dawn O’Sullivan, David Buchanan, Joseph J. Grzymski, Regeneron Genetics Center, Cristopher V. van Hout, Gannie Tzoneva, Alan R. Shuldiner, James F. Wilson, Zosia Miedzybrodzka
The BRCA1 pathogenic missense variant c.5207T>C; p.Val1736Ala (V1736A) was multiply ascertained in the clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. Oral history and birth, marriage an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e9964e191bcb883dfb2748b7db838b4
https://doi.org/10.1101/2022.07.18.22276644
https://doi.org/10.1101/2022.07.18.22276644
Publikováno v:
Rehabilitation Nursing. 45:16-22
Purpose Stroke can cause physical and emotional problems affecting sexual well-being; healthcare professionals (HCPs) are often uncomfortable discussing this topic with patients. We explored the perspectives of HCPs and stroke survivors about barrier
Autor:
Dawn O'Sullivan, H. Hailey, John Dean, Michael Corbett, Stephen Tennant, Paul Broadhurst, Fiona Cann, James Hk Grieve, Rosslyn Rankin
Publikováno v:
Clinical Genetics. 91:22-29
A phenotype-driven approach to molecular autopsy based in a multidisciplinary team comprising clinical and laboratory genetics, forensic medicine and cardiology is described. Over a 13 year period, molecular autopsy was undertaken in 96 sudden cardia
Publikováno v:
Dementia and Geriatric Cognitive Disorders. 42:42-49
Background: A large proportion of older adults with dementia remain undiagnosed, presenting to hospital with occult dementia, and are at risk for adverse outcomes, especially delirium. Routine screening for cognitive impairment among older adult pati
Autor:
Dawn O’Sullivan, Noeleen Brady, Edmund Manning, Emma O’Shea, Síle O’Grady, Niamh O ‘Regan, Suzanne Timmons
Publikováno v:
Age and Ageing
Background screening for cognitive impairment in Emergency Department (ED) requires short, reliable tools. Objective to validate the 4AT and 6-Item Cognitive Impairment Test (6-CIT) for ED dementia and delirium screening. Design diagnostic accuracy s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6482744cb53c6370b1e919aed2c41ab0
https://hdl.handle.net/10468/4896
https://hdl.handle.net/10468/4896
Autor:
Siobhan Murphy, Breda O’Leary, Col Conway, Dawn O’Sullivan, Niamh B. McGrath, Mary P. O’Sullivan
Publikováno v:
Journal of Clinical Nursing. 20:3404-3413
Aim. To determine whether the provision of an information booklet on mobilisation improves early mobility postsurgical repair of hip fracture. Background. Hip fracture among older people can have long-lasting consequences with the majority of patient
Autor:
Geraldine McCarthy, Dawn O’Sullivan
Publikováno v:
Journal of Clinical Nursing. 16:276-284
Aim. To measure fatigue and physical functioning in patients with end stage renal disease (ESRD) receiving haemodialysis and to investigate the relationships between fatigue and physical functioning. Background. Fatigue and reduced physical functioni
Autor:
Suzanne Timmons, Edmund Manning, Emma O'Shea, Dawn O'Sullivan, Noeleen M. Brady, Niamh A. O'Regan, Síle O'Grady
Publikováno v:
Age and Ageing. 45:ii1.19-ii12