Výsledky vyhledávání - "Thomas R. W. Nixon"

Retinal detachment in Loeys–Dietz syndrome

Autor: Daniel Maghsoudi, Thomas R. W. Nixon, Martin P. Snead

Publikováno v: American Journal of Medical Genetics Part A. 191:846-849

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3569738fd3a3b91e434223441565a781
https://doi.org/10.1002/ajmg.a.63077

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Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome

Autor: Hammad Malik, Zack Soh, Thomas R. W. Nixon, Annie McNinch, Allan J. Richards, Philip Alexander, Howard Martin, Martin P. Snead

Publikováno v: European Journal of Ophthalmology. :112067212311693

This clinical report describes a family with both Marfan and ocular-only Stickler syndromes. We report 2 cases of ocular-only Stickler syndrome and 2 cases of Marfan syndrome concurrent with ocular-only Stickler syndrome. Type 1 Stickler syndrome and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a3791cc4a1cf051da9f814a1d125c65e
https://doi.org/10.1177/11206721231169309

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Stickler syndrome - lessons from a national cohort

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

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Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Autor: Adrian Lomas, Allan J. Richards, Pradeep Vasudevan, Stephen Abbs, Martin P. Snead, Thomas R. W. Nixon, Philip Alexander, Annie McNinch

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

Background Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::435617c42d2434593dc6b70ba64295a6
https://doaj.org/article/fff2428e7d0945f08408501944c8b8df

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Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype

Autor: Philip Alexander, Thomas R. W. Nixon, Annie McNinch, Allan J. Richards, Philip W. P. Bearcroft, Martin P. Snead, Jan Maarten Cobben

Publikováno v: Nixon, T R W, Alexander, P, Richards, A, McNinch, A, Bearcroft, P W P, Cobben, J & Snead, M P 2019, ' Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype ', American Journal of Medical Genetics, Part A, vol. 179, no. 8, pp. 1498-1506 . https://doi.org/10.1002/ajmg.a.61191
American Journal of Medical Genetics, Part A, 179(8), 1498-1506. Wiley-Liss Inc.

Stickler syndrome (SS) is characterized by ophthalmic, articular, orofacial, and auditory manifestations. SS is usually autosomal dominantly inherited with variants in COL2A1 or COL11A1. Recessive forms are rare but have been described with homozygou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f08f0757f2c4a476406b4b76954b181
https://research.vumc.nl/en/publications/226edde7-8d8b-4bca-971a-4d5fb70d5518

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Feasibility of simple machine learning approaches to support detection of non-glaucomatous visual fields in future automated glaucoma clinics

Autor: Peter B M Thomas, Thomas Chan, Andrew White, Brinda Muthusamy, Thomas R. W. Nixon

Publikováno v: Eye (Lond)

OBJECTIVES: To assess the performance of feed-forward back-propagation artificial neural networks (ANNs) in detecting field defects caused by pituitary disease from among a glaucomatous population. METHODS: 24-2 Humphrey Visual Field reports were gat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbcec3ba919e434ed7dc0cd2f98d21b9
https://europepmc.org/articles/PMC6707152/

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Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Autor: Laura K. Towns, Allan J. Richards, Gavin Fuller, Richard Sandford, Thomas R. W. Nixon, Martin P. Snead, Philip Alexander, Stephen Abbs, Annie McNinch

Publikováno v: European Journal of Human Genetics

Stickler syndrome is a genetic disorder that can lead to joint problems, hearing difficulties and retinal detachment. Genes encoding collagen types II, IX and XI are usually responsible, but some families have no causal variant identified. We investi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6db6c1b02080a68b9e666fff14a5dcc2
https://pubmed.ncbi.nlm.nih.gov/30568244

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