Zobrazeno 1 - 10
of 243
pro vyhledávání: '"Khan KN"'
Autor:
Matsuda K, Nakajima H, Khan KN, Tanigawa T, Hamaguchi D, Kitajima M, Hiraki K, Moriyama S, Masuzaki H
Publikováno v:
International Journal of Women's Health, Vol 2012, Iss default, Pp 527-533 (2012)
Katsuya Matsuda,1 Hisayoshi Nakajima,2 Khaleque N Khan,1 Terumi Tanigawa,1 Daisuke Hamaguchi,1 Michio Kitajima,1 Koichi Hiraki,1 Shingo Moriyama,3 Hideaki Masuzaki11Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biome
Externí odkaz:
https://doaj.org/article/abe36de03e5d4802b9a19013fae34897
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
Publikováno v:
SunText Review of Neuroscience & Psychology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93c475137719837c318f116eb8ff3e37
https://doi.org/10.51737/2766-4503.2020.013
https://doi.org/10.51737/2766-4503.2020.013
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:
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:
Khan, KN, El-Asrag, ME, Ku, CA, Holder, GE, McKibbin, M, Arno, G, Poulter, JA, Carss, K, Bommireddy, T, Bagheri, S, Bakall, B, Scholl, HP, Raymond, FL, Toomes, C, Inglehearn, CF, Pennesi, ME, Moore, AT, Michaelides, M, Webster, AR, Ali, M, for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise
Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::727240471645d1e7aedd82f6fbb6ac50
https://eprints.whiterose.ac.uk/117827/1/i1552-5783-58-7-2906.pdf
https://eprints.whiterose.ac.uk/117827/1/i1552-5783-58-7-2906.pdf
Autor:
Taylor, RL, Arno, G, Poulter, JA, Khan, KN, Morarji, J, Hull, S, Pontikos, N, Rueda Martin, A, Smith, KR, Ali, M, Toomes, C, McKibbin, M, Clayton-Smith, J, Grunewald, S, Michaelides, M, Moore, AT, Hardcastle, AJ, Inglehearn, CF, Webster, AR, Black, GC
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::0f1bb0f1e78f5cf654ea8e5950fe3993
https://eprints.whiterose.ac.uk/113605/7/jamaophthalmology_Taylor_2017_oi_170004.pdf
https://eprints.whiterose.ac.uk/113605/7/jamaophthalmology_Taylor_2017_oi_170004.pdf
Publikováno v:
Toxicologic Pathology. 25:651-652
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a14f718dd7734b9d0bc3b57ffc962af
https://doi.org/10.1177/019262339702500621
https://doi.org/10.1177/019262339702500621
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