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A positive modifier of spinal muscular atrophy in the SMN2 gene.
Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT. Prior TW, et al. Am J Hum Genet. 2009 Sep;85(3):408-13. doi: 10.1016/j.ajhg.2009.08.002. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716110 Free PMC article.
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, de la Chapelle A, Prior TW. Mailman MD, et al. Among authors: prior tw. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448
Newborn and carrier screening for spinal muscular atrophy.
Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S. Prior TW, et al. Am J Med Genet A. 2010 Jul;152A(7):1608-16. doi: 10.1002/ajmg.a.33474. Am J Med Genet A. 2010. PMID: 20578137
175 results