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pro vyhledávání: '"Spiden SL"'
Autor:
Gordon, K, Spiden, SL, Connell, FC, Brice, G, Cottrell, S, Short, J, Taylor, R, Jeffery, S, Mortimer, PS, Mansour, S, Ostergaard, P
Milroy disease (MD) is an autosomal dominantly inherited primary lymphedema. In 1998, the gene locus for MD was mapped to 5q35.3 and variants in the VEGFR3 (FLT4) gene, encoding vascular endothelial growth factor receptor 3 (VEGFR3), were identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6dc13a68a8e4fe3b3f2061abebe7d894
https://openaccess.sgul.ac.uk/id/eprint/107103/7/licence.docx
https://openaccess.sgul.ac.uk/id/eprint/107103/7/licence.docx
Akademický článek
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Akademický článek
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Autor:
Sagi SV; Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK., Joshi H; Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK., Whiles E; Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK., Hikmat M; Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK., Puthi VR; Department of Paediatrics, Peterborough City Hospital, Peterborough, UK., MacDougall J; Department of Reproductive Medicine, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Spiden SL; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK., Fuller G; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK., Park SM; Department of Clinical Genetics Service, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Oyibo SO; Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK.
Publikováno v:
Endocrinology, diabetes & metabolism case reports [Endocrinol Diabetes Metab Case Rep] 2020 Mar 05; Vol. 2020. Date of Electronic Publication: 2020 Mar 05.
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Autor:
Gordon K; Department of Cardiac and Vascular Sciences, St George's University of London, London, United Kingdom., Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P
Publikováno v:
Human mutation [Hum Mutat] 2013 Jan; Vol. 34 (1), pp. 23-31. Date of Electronic Publication: 2012 Oct 16.
Autor:
Forrest CM; Faculty of Biomedical & Life Sciences, Neuroscience and Molecular Pharmacology, University of Glasgow, Glasgow, UK., Mackay GM, Stoy N, Spiden SL, Taylor R, Stone TW, Darlington LG
Publikováno v:
Journal of neurochemistry [J Neurochem] 2010 Jan; Vol. 112 (1), pp. 112-22. Date of Electronic Publication: 2009 Oct 20.
Autor:
Spiden SL; Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge, UK., Bortolozzi M, Di Leva F, de Angelis MH, Fuchs H, Lim D, Ortolano S, Ingham NJ, Brini M, Carafoli E, Mammano F, Steel KP
Publikováno v:
PLoS genetics [PLoS Genet] 2008 Oct; Vol. 4 (10), pp. e1000238. Date of Electronic Publication: 2008 Oct 31.
Autor:
Mashimo T; Département de Biologie du Développement, Institut Pasteur, Paris, France., Erven AE, Spiden SL, Guénet JL, Steel KP
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2006 Aug; Vol. 17 (8), pp. 841-50. Date of Electronic Publication: 2006 Aug 04.