Zobrazeno 1 - 10
of 156
pro vyhledávání: '"11"'
Autor:
Fergal Jennings, Agnes Awuah, Julie S Moore, Sara E. McNamee, James McLaughlin, David Hunter, R. K. Price, Nigel Quinn, Gayle E Wallace, Kathryn Maguire, William Burns, Kok Yew Ng, Connie Chao Shern, Sharon Rainey, Louise J. Robertson, Peter Sharpe, Kevin Blighe, Gary Warnock, Steve Sager, Amanda M. Kowalczyk, Mark Clarke, Tara Moore, M. Andrew Nesbit
Publikováno v:
BMJ Open, Vol 11, Iss 6 (2021)
BMJ Open
BMJ Open
ObjectiveTo evaluate the dynamics and longevity of the humoral immune response to SARS-CoV-2 infection and assess the performance of professional use of the UK-RTC AbC-19 Rapid Test lateral flow immunoassay (LFIA) for the target condition of SARS-CoV
Autor:
Clarke, J, Alikian, M, Xiao, S, Kasperaviciute, D, Thomas, E, Turbin, I, Rose, G, Olupona, K, Cifra, E, Curetean, E, Ferguson, T, Redhead, J, Genomics England Research Consortium, Shovlin, C
Publikováno v:
Journal of Medical Genetics
Whole-genome sequencing (WGS) has been championed within the UK National Health Service (NHS) and represents one of the approaches within the forthcoming UK National Genomic Test Directory to identify genetic variants that cause particular rare inher
Autor:
Mai B Bader, Eleni Zamba-Papanicolaou, Erin Loring, Richard P. Lifton, Ala Arafat, Khalid Horany, Antonis Ververis, Carol Nelson-Williams, Yaqoub Al-Baho, Bushra Ali, Lefkos T. Middleton, Kyproula Christodoulou, Ahmad A. Al-Oqaily, Tyrone DeSpenza, Ammar Fayez Mubaidin, Pantelitsa Koutsou, Abdelkarim A. Al-Qudah, Abdurrahman Muhtaseb, Rana Dajani
Publikováno v:
Journal of Medical Genetics
BackgroundDistal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that
Publikováno v:
Thorax; 2022 Supplement, Vol. 77, pA65-A68, 4p
Autor:
Morten Gersel Stokholm, Lynn Rochester, Rory Durcan, David J. Brooks, Nicola Pavese, David J. Burn, Jacopo Pasquini, Louise Wiblin
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Pasquini, J, Durcan, R, Wiblin, L, Gersel Stokholm, M, Rochester, L, Brooks, D J, Burn, D & Pavese, N 2019, ' Clinical implications of early caudate dysfunction in Parkinson's disease ', Journal of neurology, neurosurgery, and psychiatry, vol. 90, no. 10, pp. 1098-1104 . https://doi.org/10.1136/jnnp-2018-320157
Pasquini, J, Durcan, R, Wiblin, L, Gersel Stokholm, M, Rochester, L, Brooks, D J, Burn, D & Pavese, N 2019, ' Clinical implications of early caudate dysfunction in Parkinson's disease ', Journal of neurology, neurosurgery, and psychiatry, vol. 90, no. 10, pp. 1098-1104 . https://doi.org/10.1136/jnnp-2018-320157
ObjectiveAlthough not typical of Parkinson’s disease (PD), caudate dopaminergic dysfunction can occur in early stages of the disease. However, its frequency and longitudinal implications in large cohorts of recently diagnosed patients remain to be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7aad0d0055ecbcf326d7d448c87ce0d
http://hdl.handle.net/10044/1/70230
http://hdl.handle.net/10044/1/70230
Autor:
Angie S Page, Christelle Clary, Christopher G. Owen, Claire M Nightingale, Derek G Cook, Elizabeth S Limb, Daniel Lewis, Anne Ellaway, Duncan Procter, Ashley R Cooper, Aparna Shankar, Billie Giles-Corti, Bina Ram, Peter H. Whincup, Alicja R Rudnicka, Steven Cummins
Publikováno v:
BMJ Open
Nightingale, C M, Rudnicka, A R, Ram, B, Shankar, A, Limb, E S, Procter, D, Cooper, A R, Page, A S, Ellaway, A, Giles-Corti, B, Clary, C, Lewis, D, Cummins, S, Whincup, P H, Cook, D G & Owen, C G 2018, ' Housing, neighbourhood and sociodemographic associations with adult levels of physical activity and adiposity : Baseline findings from the ENABLE London study ', BMJ Open, vol. 8, no. 8, e021257 . https://doi.org/10.1136/bmjopen-2017-021257
Nightingale, C M, Rudnicka, A R, Ram, B, Shankar, A, Limb, E S, Procter, D, Cooper, A R, Page, A S, Ellaway, A, Giles-Corti, B, Clary, C, Lewis, D, Cummins, S, Whincup, P H, Cook, D G & Owen, C G 2018, ' Housing, neighbourhood and sociodemographic associations with adult levels of physical activity and adiposity : Baseline findings from the ENABLE London study ', BMJ Open, vol. 8, no. 8, e021257 . https://doi.org/10.1136/bmjopen-2017-021257
ObjectivesThe neighbourhood environment is increasingly shown to be an important correlate of health. We assessed associations between housing tenure, neighbourhood perceptions, sociodemographic factors and levels of physical activity (PA) and adipos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d2cdcfde002425a1c182d20824badc
Autor:
Anca Neluta Dragu, Elena Daniela Aflorei, Serban Radian, Benjamin Klapholz, Nina Moderau, Márta Korbonits, Chrisostomos Prodromou, Paulo S. Ribeiro, Chenghao Chen, Ralf Stanewsky
Publikováno v:
Journal of Medical Genetics
BackgroundHeterozygous germline loss-of-function mutations in the aryl hydrocarbon receptor-interacting protein gene (AIP) predispose to childhood-onset pituitary tumours. The pathogenicity of missense variants may pose difficulties for genetic couns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18a73a6761fc9062ff63fbc0f3bc85dc
http://sro.sussex.ac.uk/id/eprint/81184/1/jmedgenet-2017-105191.pdf
http://sro.sussex.ac.uk/id/eprint/81184/1/jmedgenet-2017-105191.pdf
Autor:
Marjo-Riitta Järvelin, Eero Kajantie, Paul Elliott, Steve Franks, Julia A. Horsfield, Justin M. O'Sullivan, Sylvain Sebert, Ville Karhunen, Jisha Antony, Wayne S. Cutfield, Alex Blakemore, William Schierding, Marja Vääräsmäki
BackgroundGestation is a crucial timepoint in human development. Deviation from a term gestational age correlates with both acute and long-term adverse health effects for the child. Both being born preterm and post-term, that is, having short and lon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f3c93eec59bb891f4e4bd9bb60ecb5
http://hdl.handle.net/10044/1/50802
http://hdl.handle.net/10044/1/50802
Exome sequencing technologies are constantly evolving, with exome capture systems covering more coding bases, and the continual development of improved alignment and variant-calling programmes. At the same time, new genes are frequently being implica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca5e508951711ad00adda996986be821
http://hdl.handle.net/10044/1/42295
http://hdl.handle.net/10044/1/42295
Autor:
Bradford B. Worrall, Natalia S. Rost, Sunaina Yadav, Christopher R Levi, Theresa Tran, Pankaj Sharma, Paul Bentley, Nazeeha Hasan, James F. Meschia, Ioana Cotlarciuc
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Background White matter hyperintensities (WMH) are a common radiographic finding and may be a useful endophenotype for small vessel diseases. Given high heritability of WMH, we hypothesised that certain genotypes may predispose individuals to these l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7a0e3b3f1e67911f23f36b51335cb2f
http://hdl.handle.net/10044/1/40664
http://hdl.handle.net/10044/1/40664