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763 results

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Page 1
Neurexin 1alpha structural variants associated with autism.
Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C, Zeng W, Schwartz CE, Sommer SS. Yan J, et al. Among authors: skinner c. Neurosci Lett. 2008 Jun 27;438(3):368-70. doi: 10.1016/j.neulet.2008.04.074. Epub 2008 Apr 25. Neurosci Lett. 2008. PMID: 18490107
Autism and macrocephaly.
Stevenson RE, Schroer RJ, Skinner C, Fender D, Simensen RJ. Stevenson RE, et al. Among authors: skinner c. 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: skinner sa, skinner c. 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
Absence of MeCP2 mutations in patients from the South Carolina autism project.
Lobo-Menendez F, Sossey-Alaoui K, Bell JM, Copeland-Yates SA, Plank SM, Sanford SO, Skinner C, Simensen RJ, Schroer RJ, Michaelis RC. Lobo-Menendez F, et al. Among authors: skinner c. Am J Med Genet B Neuropsychiatr Genet. 2003 Feb;117B(1):97-101. doi: 10.1002/ajmg.b.10016. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12555243
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. Schwartz CE, et al. Among authors: skinner c. J Med Genet. 2007 Jul;44(7):472-7. doi: 10.1136/jmg.2006.048637. Epub 2007 Mar 16. J Med Genet. 2007. PMID: 17369503 Free PMC article.
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: skinner c. 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.
763 results