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Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.
Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G, Deutsch CK, Dunn M, Estes A, Tager-Flusberg H, Folstein S, Hepburn S, Hyman S, McMahon W, Minshew N, Munson J, Osann K, Ozonoff S, Rodier P, Rogers S, Sigman M, Spence MA, Stodgell CJ, Volkmar F. Lainhart JE, et al. Among authors: bocian m. Am J Med Genet A. 2006 Nov 1;140(21):2257-74. doi: 10.1002/ajmg.a.31465. Am J Med Genet A. 2006. PMID: 17022081 Free PMC article.
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.
Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. Ramanathan S, et al. Among authors: bocian me. BMC Med Genet. 2004 Apr 16;5:10. doi: 10.1186/1471-2350-5-10. BMC Med Genet. 2004. PMID: 15090072 Free PMC article.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: bocian m. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683120 Free PMC article.
Genetic linkage analysis of neurofibromatosis.
Spence MA, Parry DM, Bader JL, Marazita ML, Bocian M, Funderburk SJ, Mulvihill JJ, Sparkes RS. Spence MA, et al. Among authors: bocian m. Ann N Y Acad Sci. 1986;486:287-92. doi: 10.1111/j.1749-6632.1986.tb48081.x. Ann N Y Acad Sci. 1986. PMID: 3105393 No abstract available.
68 results