Spiden SL - Search Results

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FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Gordon K, et al. Among authors: spiden sl. Hum Mutat. 2013 Jan;34(1):23-31. doi: 10.1002/humu.22223. Epub 2012 Oct 16. Hum Mutat. 2013. PMID: 23074044 Review.

Blood levels of kynurenines, interleukin-23 and soluble human leucocyte antigen-G at different stages of Huntington's disease.

Forrest CM, Mackay GM, Stoy N, Spiden SL, Taylor R, Stone TW, Darlington LG. Forrest CM, et al. Among authors: spiden sl. J Neurochem. 2010 Jan;112(1):112-22. doi: 10.1111/j.1471-4159.2009.06442.x. Epub 2009 Oct 20. J Neurochem. 2010. PMID: 19845828 Free article.

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings.

Sagi SV, Joshi H, Whiles E, Hikmat M, Puthi VR, MacDougall J, Spiden SL, Fuller G, Park SM, Oyibo SO. Sagi SV, et al. Among authors: spiden sl. Endocrinol Diabetes Metab Case Rep. 2020 Mar 5;2020:19-0145. doi: 10.1530/EDM-19-0145. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2020. PMID: 32134721 Free PMC article.

The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.

Spiden SL, Bortolozzi M, Di Leva F, de Angelis MH, Fuchs H, Lim D, Ortolano S, Ingham NJ, Brini M, Carafoli E, Mammano F, Steel KP. Spiden SL, et al. PLoS Genet. 2008 Oct;4(10):e1000238. doi: 10.1371/journal.pgen.1000238. Epub 2008 Oct 31. PLoS Genet. 2008. PMID: 18974863 Free PMC article.

Two quantitative trait loci affecting progressive hearing loss in 101/H mice.

Mashimo T, Erven AE, Spiden SL, Guénet JL, Steel KP. Mashimo T, et al. Among authors: spiden sl. Mamm Genome. 2006 Aug;17(8):841-50. doi: 10.1007/s00335-004-2438-5. Epub 2006 Aug 4. Mamm Genome. 2006. PMID: 16897347

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