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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J. Froyen G, et al. Among authors: whibley a. Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24. Am J Hum Genet. 2008. PMID: 18252223 Free PMC article.
Genome structure and evolution of Antirrhinum majus L.
Li M, Zhang D, Gao Q, Luo Y, Zhang H, Ma B, Chen C, Whibley A, Zhang Y, Cao Y, Li Q, Guo H, Li J, Song Y, Zhang Y, Copsey L, Li Y, Li X, Qi M, Wang J, Chen Y, Wang D, Zhao J, Liu G, Wu B, Yu L, Xu C, Li J, Zhao S, Zhang Y, Hu S, Liang C, Yin Y, Coen E, Xue Y. Li M, et al. Among authors: whibley a. Nat Plants. 2019 Feb;5(2):174-183. doi: 10.1038/s41477-018-0349-9. Epub 2019 Jan 28. Nat Plants. 2019. PMID: 30692677 Free PMC article.
Brassinosteroid coordinates cell layer interactions in plants via cell wall and tissue mechanics.
Kelly-Bellow R, Lee K, Kennaway R, Barclay JE, Whibley A, Bushell C, Spooner J, Yu M, Brett P, Kular B, Cheng S, Chu J, Xu T, Lane B, Fitzsimons J, Xue Y, Smith RS, Whitewoods CD, Coen E. Kelly-Bellow R, et al. Among authors: whibley a. Science. 2023 Jun 23;380(6651):1275-1281. doi: 10.1126/science.adf0752. Epub 2023 Jun 22. Science. 2023. PMID: 37347863
Antirrhinum.
Whibley A, Baxter C. Whibley A, et al. Curr Biol. 2004 Apr 6;14(7):R260-1. doi: 10.1016/j.cub.2004.03.028. Curr Biol. 2004. PMID: 15062113 Free article. No abstract available.
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: whibley a. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
58 results