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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M. Tarpey PS, et al. Among authors: kerr b. Am J Hum Genet. 2007 Feb;80(2):345-52. doi: 10.1086/511134. Epub 2007 Jan 4. Am J Hum Genet. 2007. PMID: 17236139 Free PMC article.
Nomenclature guidelines for X-linked mental retardation.
Mulley JC, Kerr B, Stevenson R, Lubs H. Mulley JC, et al. Among authors: kerr b. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):383-91. doi: 10.1002/ajmg.1320430159. Am J Med Genet. 1992. PMID: 1605216 Review.
Smith-Fineman-Myers syndrome in two brothers.
Adès LC, Kerr B, Turner G, Wise G. Adès LC, et al. Among authors: kerr b. Am J Med Genet. 1991 Sep 15;40(4):467-70. doi: 10.1002/ajmg.1320400419. Am J Med Genet. 1991. PMID: 1684092
Non-specific X linked mental retardation.
Kerr B, Turner G, Mulley J, Gedeon A, Partington M. Kerr B, et al. J Med Genet. 1991 Jun;28(6):378-82. doi: 10.1136/jmg.28.6.378. J Med Genet. 1991. PMID: 1870094 Free PMC article. Review.
How many X-linked genes for non-specific mental retardation (MRX) are there?
Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G. Gedeon AK, et al. Among authors: kerr b. Am J Med Genet. 1996 Jul 12;64(1):158-62. doi: 10.1002/(SICI)1096-8628(19960712)64:1<158::AID-AJMG26>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8826466 Review. No abstract available.
729 results