Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Sean Mullany"'
Autor:
Sean Mullany, MD, Santiago Diaz-Torres, MPhil, Joshua M. Schmidt, PhD, Daniel Thomson, PhD, Ayub Qassim, MBBS, PhD, Henry N. Marshall, MD, Lachlan S.W. Knight, MOrth, Ella C. Berry, MChD, Antonia Kolovos, MD, David Dimasi, PhD, Stewart Lake, MBChB, PhD, Richard A. Mills, MBBS, PhD, John Landers, MBBS, PhD, Paul Mitchell, MBBS, PhD, Paul R. Healey, MBBS, PhD, Toby Commerford, MBBS, Sonja Klebe, MD, PhD, Emmanuelle Souzeau, PhD, Mark M. Hassall, MBBS, DPhil, Stuart MacGregor, PhD, Puya Gharahkhani, PhD, Owen M. Siggs, MD, DPhil, Jamie E. Craig, MBBS, DPhil
Publikováno v:
Ophthalmology Science, Vol 3, Iss 3, Pp 100287- (2023)
Purpose: To elucidate a potential association between the apolipoprotein E (APOE) E4 allele and glaucoma prevalence in large cohorts. Design: A cross-sectional analysis of baseline and prospectively collected cohort data. Participants: UK Biobank (UK
Externí odkaz:
https://doaj.org/article/05acaa6031d847e8b2014afc4e21d1d2
Autor:
Santiago Diaz-Torres, Weixiong He, Jackson Thorp, Sahba Seddighi, Sean Mullany, Christopher J. Hammond, Pirro G. Hysi, Louis R. Pasquale, Anthony P. Khawaja, Alex W. Hewitt, Jamie E. Craig, David A. Mackey, Janey L. Wiggs, Cornelia van Duijn, Michelle K. Lupton, Jue-Sheng Ong, Stuart MacGregor, Puya Gharahkhani
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104615- (2023)
Summary: Background: Primary open-angle glaucoma (POAG) is an optic neuropathy characterized by progressive degeneration of the optic nerve that leads to irreversible visual impairment. Multiple epidemiological studies suggest an association between
Externí odkaz:
https://doaj.org/article/998bca0455cc4d5c8fd546e1ecf16ea5
Autor:
Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to r
Externí odkaz:
https://doaj.org/article/4ff1c19df53e4efbbc6b1d8bf05fb8cc
Autor:
Sean Mullany, MD, Henry Marshall, MD, Santiago Diaz-Torres, Ella C. Berry, MChD, Joshua M. Schmidt, PhD, Daniel Thomson, PhD, Ayub Qassim, MBBS, PhD, Minh-Son To, MD, PhD, David Dimasi, PhD, Abraham Kuot, PhD, Lachlan S.W. Knight, Georgina Hollitt, MBBS, Antonia Kolovos, MD, Angela Schulz, PhD, Stewart Lake, MBChB, Richard A. Mills, MBBS, PhD, Ashish Agar, MBBS, PhD, Anna Galanopoulos, MBBS, John Landers, MBBS, PhD, Paul Mitchell, MBBS, PhD, Paul R. Healey, MBBS, PhD, Stuart L. Graham, MBBS, PhD, Alex W. Hewitt, MBBS, PhD, Emmanuelle Souzeau, PhD, Mark M. Hassall, MBBS, DPhil, Sonja Klebe, MBBS, PhD, Stuart MacGregor, PhD, Puya Gharahkhani, PhD, Robert J. Casson, MBBS, DPhil, Owen M. Siggs, MD, DPhil, Jamie E. Craig, MBBS, DPhil
Publikováno v:
Ophthalmology Science, Vol 2, Iss 2, Pp 100159- (2022)
Purpose: To investigate the association between the apolipoprotein E (APOE) E4 dementia-risk allele and prospective longitudinal retinal thinning in a cohort study of suspect and early manifest glaucoma. Design: Retrospective analysis of prospective
Externí odkaz:
https://doaj.org/article/faa3c6b4d45c4abdab7b2a769b6e35ab
Autor:
Henry Marshall, MBBS, Sean Mullany, MD, Xikun Han, PhD, Ella C. Berry, MChD, Mark M. Hassall, DPhil, Ayub Qassim, PhD, Thi Nguyen, BMSc(Optom), Georgina L. Hollitt, MBBS, Lachlan S.W. Knight, MOrth, Bronwyn Ridge, BA, Joshua Schmidt, PhD, Caroline Crowley, BDS, Angela Schulz, PhD, Richard A. Mills, PhD, Ashish Agar, PhD, Anna Galanopoulos, MBBS, John Landers, PhD, Paul R. Healey, PhD, Stuart L. Graham, PhD, Alex W. Hewitt, PhD, Robert J. Casson, DPhil, Stuart MacGregor, PhD, Owen M. Siggs, DPhil, Jamie E. Craig, DPhil
Publikováno v:
Ophthalmology Science, Vol 2, Iss 1, Pp 100108- (2022)
Purpose: To evaluate the association between genetic risk for cardiovascular disease and retinal thinning in early glaucoma. Design: Prospective, observational genetic association study Participants: Multicohort study combining a cohort of patients w
Externí odkaz:
https://doaj.org/article/d54cbf6a31aa47349098337e5e924075
Autor:
Henry N. Marshall, Georgina L. Hollitt, Kristopher Wilckens, Sean Mullany, Shilpa Kuruvilla, Emmanuelle Souzeau, John Landers, Xikun Han, Stuart MacGregor, Jamie E. Craig, Owen M. Siggs
Publikováno v:
Ophthalmology Glaucoma. 6:54-57
To evaluate the association between a polygenic risk score (PRS) for primary open-angle glaucoma (POAG) and the age at the first trabeculectomy and the need for bilateral trabeculectomy.Retrospective observational cohort study.Nine hundred and three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed440211e9fc925b22387fe5a932729
https://doi.org/10.1016/j.ogla.2022.06.009
https://doi.org/10.1016/j.ogla.2022.06.009
Autor:
Henry N. Marshall, Sean Mullany, Xikun Han, Ayub Qassim, Weixiong He, Mark M. Hassall, Joshua Schmidt, Daniel Thomson, Thi Thi Nguyen, Ella C. Berry, Lachlan SW. Knight, Georgina L. Hollitt, Bronwyn Ridge, Angela Schulz, Richard A. Mills, Paul R. Healey, Ashish Agar, Anna Galanopoulos, John Landers, Stuart L. Graham, Alex W. Hewitt, Robert J. Casson, Stuart MacGregor, Owen M. Siggs, Jamie E. Craig
Publikováno v:
Ophthalmology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cda4291ac383adb3f6e9faa1dde4e2e9
https://doi.org/10.1016/j.ophtha.2023.03.028
https://doi.org/10.1016/j.ophtha.2023.03.028
Autor:
Anna Galanopoulos, Paul R. Healey, Ashish Agar, Farshad Abedi, Alex W. Hewitt, Stuart L. Graham, Lachlan S.W. Knight, Robert J Casson, Angela Schulz, Thi Nguyen, Owen M. Siggs, Antonia Kolovos, John Landers, Henry Marshall, Jamie E Craig, Angela J Chappell, Mona S Awadalla, Ayub Qassim, Sean Mullany, Mark M. Hassall
Publikováno v:
Ophthalmology. 128:993-1004
Purpose To investigate corneal stiffness parameters (SPs) as predictors of future progression risk in glaucoma suspect eyes. Design Prospective, longitudinal study. Participants Three hundred seventy-one eyes from 228 primary open-angle glaucoma susp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3be989af04385e1d60d9f05b77b1af03
https://doi.org/10.1016/j.ophtha.2020.11.021
https://doi.org/10.1016/j.ophtha.2020.11.021
Autor:
Paul R. Healey, Antonia Kolovos, Xikun Han, Alex W. Hewitt, Puya Gharahkhani, Thi Nguyen, Robert J Casson, John Landers, Ashish Agar, Angela Schulz, Owen M. Siggs, Anna Galanopoulos, Henry Marshall, Stuart MacGregor, Sean Mullany, Stuart L. Graham, Mona S Awadalla, Jamie E Craig, Ayub Qassim, Emmanuelle Souzeau, Mark M. Hassall
Publikováno v:
Ophthalmology Glaucoma. 4:411-420
Purpose Intraocular pressure (IOP) elevations may occur in early morning or outside office hours and can be missed during routine in-clinic IOP measurements. Such fluctuations or peaks likely contribute to glaucoma progression. We sought to investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d26c9b025e6806aeac2955a87e87af8
https://doi.org/10.1016/j.ogla.2020.12.002
https://doi.org/10.1016/j.ogla.2020.12.002
Autor:
Ella C. Berry, Lachlan S.W. Knight, Jamie E Craig, Sonja Klebe, Andrew Dubowsky, Matthew Hussey, Ayub Qassim, Sean Mullany, James Breen, Mark M. Hassall, Emmanuelle Souzeau, Richard A. Mills, Henry Marshall, Tiger Zhou, Owen M. Siggs
Publikováno v:
Human Mutation. 42:818-826
Gelsolin (GSN) variants have been implicated in amyloidosis of the Finnish type. This case series reports a novel GSN:c.1477T>C,p.(Trp493Arg) variant in a family with ocular and systemic features consistent with Finnish Amyloidosis. Exome sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb0e4e5de583b82efa1a3733590de649
https://doi.org/10.1002/humu.24214
https://doi.org/10.1002/humu.24214