| 1 | MRXS14, UPF3B |
| Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. | |
| Xu X, Zhang L, Tong P, Xun G, Su W, Xiong Z, Zhu T, Zheng Y, Luo S, Pan Y, Xia K, Hu Z. | |
| Clin Genet 83(6):560-4. doi: 10.1111/cge.12014. Epub 2012 Sep 28. 2013 | |
| 2 | MRXS14, UPF3B |
| Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. | |
| Lynch SA, Nguyen LS, Ng LY, Waldron M, McDonald D, Gecz J. | |
| Eur J Med Genet 55(8-9):476-9. doi: 10.1016/j.ejmg.2012.03.010. Epub 2012 Apr 25. 2012 | |
| 3 | FGS6, LJFS3, MRXS14, UPF3B |
| Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. | |
| Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M. | |
| Mol Psychiatry 15(7):767-76. doi: 10.1038/mp.2009.14. Epub 2009 Feb 24. 2010 | |
| 4 | FGS6, LJFS2, MRXS14, UPF3B |
| Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. | |
| Tarpey PS, Lucy Raymond F, 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, Andrew Futreal P, Srivastava AK, Stratton MR, Gecz J. | |
| Nat Genet 39(9):1127-33. Epub 2007 Aug 19. 2007 | |
| 5 | MRXS14 |
| Invited editorial : X-linked mental retardation : in pursuit of a gene map. | |
| Schwartz CE. | |
| Am J Hum Genet 52 : 1025-1031. 1993 | |
| 6 | MRXS14 |
| Linkage analysis in a large family with nonspecific X-linked mental retardation. | |
| Glass LA, et al. | |
| Am J Med Genet 38 : 240-243. 1991 | |
| 7 | MRXS14 |
| X linked mental retardation. | |
| Glass IA. | |
| J Med Genet 28 : 361-371. 1991 | |
| 8 | MRXS14 |
| Non-specific X linked mental retardation. | |
| Kerr B, et al. | |
| J Med Genet 28 : 378-382. 1991 | |