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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Tarpey PS, et al. Among authors: brooks d. Nat Genet. 2007 Sep;39(9):1127-33. doi: 10.1038/ng2100. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704778 Free PMC article.
Addressing barriers and identifying facilitators to support informed consent and recruitment in the Cavernous malformations A Randomised Effectiveness (CARE) pilot phase trial: insights from the integrated QuinteT recruitment intervention (QRI).
Wade J, Farrar N, Realpe AX, Donovan JL, Forsyth L, Harkness KA, Hutchinson PJA, Kitchen N, Lewis SC, Loan JJM, Stephen J, Al-Shahi Salman R; CARE pilot trial collaboration. Wade J, et al. EClinicalMedicine. 2024 Apr 18;71:102557. doi: 10.1016/j.eclinm.2024.102557. eCollection 2024 May. EClinicalMedicine. 2024. PMID: 38813441 Free PMC article.
Response to Harding and Martinez.
Brooks DL, Musunuru K, Wang X. Brooks DL, et al. HGG Adv. 2024 May 14;5(3):100307. doi: 10.1016/j.xhgg.2024.100307. Online ahead of print. HGG Adv. 2024. PMID: 38796849 Free article. No abstract available.
3,759 results