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Page 1
Autism and macrocephaly.
Stevenson RE, Schroer RJ, Skinner C, Fender D, Simensen RJ. Stevenson RE, et al. Lancet. 1997 Jun 14;349(9067):1744-5. doi: 10.1016/S0140-6736(05)62956-X. Lancet. 1997. PMID: 9193390 No abstract available.
Autism and maternally derived aberrations of chromosome 15q.
Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE. Schroer RJ, et al. Among authors: stevenson re. Am J Med Genet. 1998 Apr 1;76(4):327-36. doi: 10.1002/(sici)1096-8628(19980401)76:4<327::aid-ajmg8>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9545097
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. Sharp AJ, et al. Among authors: stevenson re. Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17. Nat Genet. 2008. PMID: 18278044 Free PMC article.
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Whibley AC, et al. Among authors: stevenson re. Am J Hum Genet. 2010 Aug 13;87(2):173-88. doi: 10.1016/j.ajhg.2010.06.017. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655035 Free PMC article.
297 results