Zobrazeno 1 - 10
of 92
pro vyhledávání: '"Poulter JA"'
Autor:
Yahya, S, Smith, CEL, Poulter, JA, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, MI, Cremers, FPM, Hardcastle, AJ, Castle, B, Steel, DHW, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Webster, AR, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF
Purpose To characterise the phenotype observed in a case series with macular disease and determine the cause. Design Multi-centre case series. Participants Six families (seven patients) with sporadic or multiplex macular disease with onset at 36-78 y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e648b1ddfe054c1b1657fdd744e16b62
Autor:
Best, S, Lord, J, Roche, M, Watson, CM, Poulter, JA, Bevers, RPJ, Stuckey, A, Szymanska, K, Ellingford, JM, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, CF, Johnson, CA, Wheway, G, Genomics England Research Consortium
Background Primary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the ‘cell’s antenna’. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), recruiting National Health Service
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::a16b74b5baef8a46202dc77d14b39a72
https://eprints.whiterose.ac.uk/178481/13/jmedgenet-2021-108065.full.pdf
https://eprints.whiterose.ac.uk/178481/13/jmedgenet-2021-108065.full.pdf
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
Autor:
Nikolopoulos, G, Smith, CEL, Poulter, JA, Murillo, G, Silva, S, Brown, CJ, Day, PF, Soldani, F, Al-Bahlani, S, Harris, SA, O’Connell, MJ, Inglehearn, CF, Mighell, AJ
Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of 10 families with recessive hypomaturation AI revealed four novel and one known variants in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::92905457a6fb8dca6a8f5319c44660f5
Autor:
Poulter, JA, Gravett, MSC, Taylor, RL, Fujinami, K, De Zaeytijd, J, Bellingham, J, Rehman, AU, Hayashi, T, Kondo, M, Rehman, A, Ansar, M, Donnelly, D, Toomes, C, Ali, M, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere, E, Leroy, BP, Davies, NP, Henderson, RH, Webster, AR, Rivolta, C, Mahroo, OA, Arno, G, Black, GCM, McKibbin, M, Harris, SA, Khan, KN, Inglehearn, CF
Biallelic mutations in G‐Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in‐depth bioin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::133dcfc6b435d7d289822b9ed48e03fb
https://eprints.whiterose.ac.uk/168583/1/humu.24140.pdf
https://eprints.whiterose.ac.uk/168583/1/humu.24140.pdf
Autor:
Vig, A, Poulter, JA, Ottaviani, D, Tavares, E, Toropova, K, Tracewska, AM, Mollica, A, Kang, J, Kehelwathugoda, O, Paton, T, Maynes, JT, Wheway, G, Arno, G, Genomics England Research Consortium, Khan, KN, McKibbin, M, Toomes, C, Ali, M, Di Scipio, M, Li, S, Ellingford, J, Black, G, Webster, A, Rydzanicz, M, Stawiński, P, Płoski, R, Vincent, A, Cheetham, ME, Inglehearn, CF, Roberts, A, Heon, E
Purpose: Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD).\ud \ud Methods: Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. In vitro assays were developed t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ce915b34fc1698b0cc6bb79e22a2a6ad
Autor:
Taylor, RL, Poulter, JA, Downes, SM, McKibbin, M, Khan, KN, Inglehearn, CF, Webster, AR, Hardcastle, AJ, Michaelides, M, Bishop, PN, Clark, SJ, Black, GC, UKIRDC
Purpose: To characterise the molecular mechanism underpinning early-onset macular drusen (EOMD), a phenotypically severe sub-type of age-related macular degeneration (AMD), in a sub-group of patients. Design: Multi-centre case series, in vitro experi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::b8fce6b5d01e65352c2a059d6b463da9
Autor:
Smith, CEL, Poulter, JA, Brookes, SJ, Murillo, G, Silva, S, Brown, CJ, Patel, A, Hussain, H, Kirkham, J, Inglehearn, CF, Mighell, AJ
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnormal formation of dental enamel, either in isolation or as part of a syndrome. Heterozygous variants in laminin subunit beta 3 (LAMB3) cause AI with dom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::cf500b27f62a72c0a3bdcd2248aefaab
https://eprints.whiterose.ac.uk/143855/8/0022034519835205.pdf
https://eprints.whiterose.ac.uk/143855/8/0022034519835205.pdf
Autor:
Khan, KN, Robson, A, Mahroo, OAR, Arno, G, Inglehearn, CF, Armengol, M, Waseem, N, Holder, GE, Carss, KJ, Raymond, LF, Webster, AR, Moore, AT, McKibbin, M, Van Genderen, MM, Poulter, JA, Michaelides, M
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype–phenotype correlations are curren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::c8eb6985de134ac5029418915decaeb6
https://eprints.whiterose.ac.uk/127199/1/s41431-017-0082-2.pdf
https://eprints.whiterose.ac.uk/127199/1/s41431-017-0082-2.pdf
Autor:
Whitehouse, LLE, Smith, CEL, Poulter, JA, Brown, CJ, Patel, A, Lamb, T, Brown, LR, O'Sullivan, EA, Mitchell, RE, Berry, IR, Charlton, R, Inglehearn, CF, Mighell, AJ
Publikováno v:
In Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology July 2021 132(1):e52-e52
