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Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Michelson DJ, et al. Among authors: moeschler jb. Neurology. 2011 Oct 25;77(17):1629-35. doi: 10.1212/WNL.0b013e3182345896. Epub 2011 Sep 28. Neurology. 2011. PMID: 21956720 Review.
So what? Does the test lead to improved health outcomes?
Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E. Michelson DJ, et al. Among authors: moeschler jb. Neurology. 2012 Feb 7;78(6):440-1; author reply 441-2. doi: 10.1212/WNL.0b013e318248042c. Neurology. 2012. PMID: 22311931 No abstract available.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: moeschler jb. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
74 results