Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Rhona MacLeod"'
Autor:
Richard Body, Mark A Turner, William G Newman, John Henry McDermott, Gino Miele, Peter Roberts, Fiona Ulph, Rhona MacLeod, Shaun Ainsworth, Rachel Mahood, Duncan Stoddard, Ajit Mahaveer, Rachel Corry, Julia Garlick, Laura Kemp, Karen Harvey, Nicola Booth
Publikováno v:
BMJ Open, Vol 11, Iss 6 (2021)
Introduction In conjunction with a beta-lactam, aminoglycosides are the first-choice antibiotic for empirical treatment of sepsis in the neonatal period. The m.1555A>G variant predisposes to ototoxicity after aminoglycoside administration and has a p
Externí odkaz:
https://doaj.org/article/53288dbec591463faeeb9dd4457cb49a
Publikováno v:
EUROPEAN JOURNAL OF HUMAN GENETICS
Genetic screening can be hugely beneficial, yet its expansion poses clinical and ethical challenges due to results of uncertain clinical relevance (such as ‘cystic fibrosis screen positive, inconclusive diagnosis’/CFSPID). This review systematica
Publikováno v:
H: Clinical care and clinical services.
Publikováno v:
Macleod, R 2021, ' A family systems approach to genetic counseling; development of narrative interventions ', Journal of Genetic Counselling . https://doi.org/10.1002/jgc4.1377
Journal of Genetic Counseling
Journal of Genetic Counseling
To what extent are family systems approaches relevant in the genomics era? What difference does it make to remember the wider social context within which ‘problems’ associated with a genetic diagnosis reside? How does this influence the conversat
Publikováno v:
Genetic Counseling Practice
Publikováno v:
Davies, E, Craufurd, D & Macleod, R 2020, ' “It’s being part of the big picture, even though you’re a tiny jigsaw piece”—motivations and expectations of individuals participating in the Enroll-HD observational study ', Journal of community genetics . https://doi.org/10.1007/s12687-020-00459-3
Journal of Community Genetics
Journal of Community Genetics
Predictive test guidelines for Huntington’s disease (HD) recommend individuals are offered opportunities to participate in research regardless of test outcome. Consistent with most HD centres of excellence, the Manchester Centre for Genomic Medicin
Autor:
Rhona MacLeod, Ajit Mahaveer, Paul Wilson, John H McDermott, Karen Harvey, Duncan Stoddard, Julia Garlick, Fiona Ulph, Rachel Mahood, Nicola Booth, Rachel Corry, Shaun Ainsworth, William G. Newman, Richard Body, Gino Miele, Mark A. Turner, Laura Kemp, Peter Roberts, Iain A. Bruce
Publikováno v:
Newman, W, Mcdermott, J, Mahood, R, Mahaveer, A, Bruce, I, Body, R, Ulph, F, Booth, N, Macleod, R & Wilson, P 2021, ' The Pharmacogenetics to Avoid Loss of Hearing (PALOH) Trial: A Protocol for a Prospective Observational Implementation Trial ', BMJ Open, vol. 11, no. 6, e044457, pp. e044457 . https://doi.org/10.1136/bmjopen-2020-044457
BMJ Open
BMJ Open, Vol 11, Iss 6 (2021)
BMJ Open
BMJ Open, Vol 11, Iss 6 (2021)
IntroductionIn conjunction with a beta-lactam, aminoglycosides are the first-choice antibiotic for empirical treatment of sepsis in the neonatal period. The m.1555A>G variant predisposes to ototoxicity after aminoglycoside administration and has a pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::615a61d749cbfd7d5aabc92b9a9c27ba
https://research.manchester.ac.uk/en/publications/cd26760e-01b4-4d86-8096-29db265656de
https://research.manchester.ac.uk/en/publications/cd26760e-01b4-4d86-8096-29db265656de
Publikováno v:
European journal of human genetics : EJHG. 30(5)
Genetic screening can be hugely beneficial, yet its expansion poses clinical and ethical challenges due to results of uncertain clinical relevance (such as 'cystic fibrosis screen positive, inconclusive diagnosis'/CFSPID). This review systematically
Autor:
Cecilia Compton, Mary O'Driscoll, Sian Jenkins, Rhona MacLeod, Angus John Clarke, Nayana Lahiri, Oliver W. Quarrell, Hannah Musgrave, Alan Fryer, Patrick J. Morrison, Martine J. van Belzen, Christine E. M. de Die-Smulders, Zosia Miedzybrodzka, Corien C. Verschuuren-Bemelmans, Mark Strong, Emilia K. Bijlsma, Sascha Vermeer
Publikováno v:
American Journal of Medical Genetics Part B-neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(1), 35-39
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(1), 35-39
A consistent feature of predictive testing guidelines for Huntington's disease (HD) is the recommendation not to undertake predictive tests on those
Autor:
Rhona MacLeod, Nayana Lahiri, Oliver W. Quarrell, Zosia Miedzybrodzka, Martin B. Delatycki, Charlotte Tomlinson, Angus John Clarke, David Craufurd, Pamela Renwick
Publikováno v:
Journal of Huntington's Disease. 8:357-359