Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Arabella V. Poulson"'
Autor:
Philip Alexander, Gregory S. Fincham, Senjah Brown, David Collins, Annie M. McNinch, Arabella V. Poulson, Allan Richards, Howard Martin, Nick Wareham, Martin P. Snead
The Stickler Syndromes are inherited conditions caused by abnormalities in structural proteins that are expressed in the eye, inner ear, and hyaline and elastic cartilage [1] and affect 1 in 7500 live births [2]. There are over 10 different subtypes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c3460973856db62b9f1edbf452c3345
Autor:
Annie McNinch, Thomas R. W. Nixon, Martin P. Snead, Arabella V. Poulson, Philip Alexander, A M Blackwell, Howard Martin, Allan J. Richards, Nick Shenker, S Brown, Peter Bale
Publikováno v:
Eye
In 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most common cause of retinal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66502396f6ec8faa188080d6f0c2ceb9
Publikováno v:
The Medico-legal journal. 89(2)
Recent reports suggest that the use of an outpatient-based procedure (pneumatic retinopexy, PR) for retinal detachment repair should be encouraged within the UK, especially in light of Covid-19 and possible restrictions/competing demands on access to
Autor:
Allan J. Richards, Arabella V. Poulson, Jack Stancel-Lewis, Philip Alexander, Annie McNinch, Philip Gomersall, Martin P. Snead, David M. Baguley, Gregory S. Fincham
Publikováno v:
European Archives of Oto-Rhino-Laryngology
Funder: University of Nottingham
Purpose: To present the extent and site of lesion of auditory dysfunction in a large cohort of individuals with type 2 Stickler Syndrome. Type 2 Stickler Syndrome results from a mutation in the gene coding for α
Purpose: To present the extent and site of lesion of auditory dysfunction in a large cohort of individuals with type 2 Stickler Syndrome. Type 2 Stickler Syndrome results from a mutation in the gene coding for α
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::446642d3f1b9cea901b11b2fbcc3ee03
https://www.repository.cam.ac.uk/handle/1810/327757
https://www.repository.cam.ac.uk/handle/1810/327757
Autor:
Howard Martin, David M. Baguley, Nick Shenker, Philip Alexander, Martin P. Snead, Annie McNinch, Peter Bale, Arabella V. Poulson
Publikováno v:
Therapeutic Advances in Rare Disease. 1:263300402097866
The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in t
Publikováno v:
Retina (Philadelphia, Pa.). 38(4)
Autor:
Gregory S. Fincham, Allan J. Richards, Martin P. Snead, Panagiotis I. Sergouniotis, Arabella V. Poulson, Annie McNinch, Corinne M. Spickett
Publikováno v:
Eye. 29:475-482
To study the variability of the ophthalmic phenotype in Kniest dysplasia. Kniest dysplasia is an inherited disorder associated with defects in type II collagen and characterised by short-trunked dwarfism, kyphoscoliosis, and enlarged joints with rest
Publikováno v:
Retina (Philadelphia, Pa.). 39
Autor:
Gregory S. Fincham, Martin P. Snead, G A Limb, Michael Hollingshead, Sean James, Christopher Thrasivoulou, Allan J. Richards, Carl Spickett, David Snead, Annie McNinch, Arabella V. Poulson
Publikováno v:
Ophthalmology. 125(2)
Purpose Despite posterior vitreous detachment being a common ocular event affecting most individuals in an aging population, there is little consensus regarding its precise anatomic definition. We investigated the morphologic appearance and molecular
Autor:
Martin P. Snead, John D. Scott, Gregory S. Fincham, Annie McNinch, Allan J. Richards, Arabella V. Poulson, Laura Pasea, Christopher Carroll
Publikováno v:
Ophthalmology. 121(8):1588-1597
Purpose: The Stickler syndromes are the most common causes of inherited and childhood retinal detachment; however, no consensus exists regarding the effectiveness of prophylactic intervention. We evaluate the long-term safety and efficacy of the Camb