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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: mulley jc. 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: mulley jc. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272
Channelopathies as a genetic cause of epilepsy.
Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Mulley JC, et al. Curr Opin Neurol. 2003 Apr;16(2):171-6. doi: 10.1097/01.wco.0000063767.15877.c7. Curr Opin Neurol. 2003. PMID: 12644745 Review.
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J. Dibbens LM, et al. Among authors: mulley jc. Nat Genet. 2008 Jun;40(6):776-81. doi: 10.1038/ng.149. Epub 2008 May 11. Nat Genet. 2008. PMID: 18469813 Free PMC article.
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.
261 results