Výsledky vyhledávání - "Thomas R. W. Nixon"

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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