Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Stephanie, Barton"'
Autor:
Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic activity leads to system
Externí odkaz:
https://doaj.org/article/7b225a2d284c4310a92d08a21c5707ae
Autor:
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Abstract Background The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however, increasingly being
Externí odkaz:
https://doaj.org/article/592317068741464ab4f2701a8ccc78e4
Autor:
Jamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R FitzPatrick, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C Martin, William G Newman, Anne O’Donnell-Luria, Simon C Ramsden, Heidi L Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C Taylor, Maggie Williams, Jordan C Wood, Caroline F Wright, Steven M Harrison, Nicola Whiffin
PurposeThe majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however, increasingly being demonstrated,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b7562f7f20b4903ba4c5352fa382d2e
https://doi.org/10.1101/2021.12.28.21267792
https://doi.org/10.1101/2021.12.28.21267792
Autor:
Stephanie Barton-Farcas
Publikováno v:
Applied Theatre with Youth ISBN: 9781003039419
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f61887d18469ebbbdb0968d901af6f5
https://doi.org/10.4324/9781003039419-33
https://doi.org/10.4324/9781003039419-33
Autor:
Christopher Campbell, Graeme C.M. Black, Omamah A. Jiman, Jane Ashworth, Sofia Douzgou, Rachel L. Taylor, Eva Lenassi, Forbes D C Manson, Tracy Fletcher, Stephanie Barton, Jamie M Ellingford, Claire Hardcastle, Simon C Ramsden, Jill Clayton Smith, Susmito Biswas
Publikováno v:
Uk Inherited Retinal Disease Consortium 2020, ' Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0548-5
European Journal of Human Genetics
European Journal of Human Genetics
Thirty percent of all inherited retinal disease (IRD) is accounted for by conditions with extra-ocular features. This study aimed to establish the genetic diagnostic pick-up rate for IRD patients with one or more extra-ocular features undergoing pane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dd98c73ac071d9a5d792ad5a994775
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxK
Autor:
Sirkka-Liisa Rudanko, Riitta Salonen-Kajander, Simon C Ramsden, Kristiina Avela, Arja Laitinen, Stephanie Barton
Purpose To study the genetic aetiology and phenotypes of retinal degeneration (RD) in Finnish children born during 1993-2009. Methods Children with retinal degeneration (N = 68) were investigated during 2012-2014 with a targeted gene analysis or a ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bacc9d0b9ce5b580674a2dfa019f211
http://hdl.handle.net/10138/312987
http://hdl.handle.net/10138/312987
Publikováno v:
Physical Therapy in Sport. 29:101-107
Objectives To investigate the changes in lumbar kinematic and paraspinal muscle activation before, during, and after a 4-week minimalist running training. Design Prospective cohort study. Setting University research laboratory. Participants Seventeen
Autor:
Kristiina Avela, Kristiina Aittomäki, Stephanie Barton, Liina Kuuluvainen, Sanna Seitsonen, Eeva-Marja Sankila, Stuart Gillies
Publikováno v:
Acta Ophthalmologica. 96:183-191
Purpose To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients. Methods A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients. Results The overall diagnostic yi
Autor:
Verity F. Oliver, Katherine van Bysterveldt, Graeme C.M. Black, Nandoun Abeysekera, Stephanie Barton, Jamie M Ellingford, Andrea L Vincent
Publikováno v:
Clinical & Experimental Ophthalmology. 45:901-910
Importance This study identifies unique genetic variation observed in a cohort of Māori and Polynesian patients with rod-cone retinal dystrophies using a targeted next-generation sequencing retinal disease gene panel. Background With over 250 retina
Autor:
Judith A. Goodship, Jessica Penhallow, Morad Ansari, Alice Welham, David R. FitzPatrick, Joanna Moss, Chris Oliver, Catherine Roberts, David Bourn, Stephanie Barton, Peter Hammond
Publikováno v:
Moss, J, Penhallow, J, Ansari, M, Barton, S, Bourn, D, FitzPatrick, D R, Goodship, J, Hammond, P, Roberts, C, Welham, A & Oliver, C 2017, ' Genotype-phenotype correlations in Cornelia de Lange syndrome : Behavioral characteristics and changes with age ', American Journal of Medical Genetics Part A, vol. 173, no. 6, pp. 1566-1574 . https://doi.org/10.1002/ajmg.a.38228
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21)