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Page 1
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Hildebrand MS, Jackson VE, Scerri TS, Van Reyk O, Coleman M, Braden RO, Turner S, Rigbye KA, Boys A, Barton S, Webster R, Fahey M, Saunders K, Parry-Fielder B, Paxton G, Hayman M, Coman D, Goel H, Baxter A, Ma A, Davis N, Reilly S, Delatycki M, Liégeois FJ, Connelly A, Gecz J, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Hildebrand MS, et al. Among authors: gecz j. Neurology. 2020 May 19;94(20):e2148-e2167. doi: 10.1212/WNL.0000000000009441. Epub 2020 Apr 28. Neurology. 2020. PMID: 32345733
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: gecz j. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF. Scheffer IE, et al. Among authors: gecz j. Brain. 2008 Apr;131(Pt 4):918-27. doi: 10.1093/brain/awm338. Epub 2008 Jan 29. Brain. 2008. PMID: 18234694
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. Hynes K, et al. Among authors: gecz j. J Med Genet. 2010 Mar;47(3):211-6. doi: 10.1136/jmg.2009.068817. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752159
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.
Shoubridge C, Tan MH, Fullston T, Cloosterman D, Coman D, McGillivray G, Mancini GM, Kleefstra T, Gécz J. Shoubridge C, et al. Among authors: gecz j. Pathogenetics. 2010 Jan 5;3:1. doi: 10.1186/1755-8417-3-1. Pathogenetics. 2010. PMID: 20148114 Free PMC article.
374 results