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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Dobyns WB, et al. Among authors: christian sl. Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293. Am J Med Genet A. 2008. PMID: 18536050 Free PMC article.
Recurrent 16p11.2 microdeletions in autism.
Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL. Kumar RA, et al. Among authors: christian sl. Hum Mol Genet. 2008 Feb 15;17(4):628-38. doi: 10.1093/hmg/ddm376. Epub 2007 Dec 21. Hum Mol Genet. 2008. PMID: 18156158
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.
Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Robinson WP, et al. Among authors: christian sl. Hum Mol Genet. 1998 Jun;7(6):1011-9. doi: 10.1093/hmg/7.6.1011. Hum Mol Genet. 1998. PMID: 9580665 Free article.
Two 22q telomere deletions serendipitously detected by FISH.
Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, Christian SL, Kittikamron K, Ledbetter DH. Precht KS, et al. Among authors: christian sl. J Med Genet. 1998 Nov;35(11):939-42. doi: 10.1136/jmg.35.11.939. J Med Genet. 1998. PMID: 9832042 Free PMC article.
The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Fang P, et al. Among authors: christian sl. Hum Mol Genet. 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. Hum Mol Genet. 1999. PMID: 9887341
111 results