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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J. Shoubridge C, et al. Among authors: shaw m. Nat Genet. 2010 Jun;42(6):486-8. doi: 10.1038/ng.588. Epub 2010 May 16. Nat Genet. 2010. PMID: 20473311 Free PMC article.
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Strømme P, et al. Among authors: shaw ma. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Among authors: shaw ma. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: shaw ma. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
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: shaw m. 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.
2,738 results