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2012
C. Huang, Yang, Y. - F., Zhang, H., Xie, L., Chen, J. - L., Wang, J., Tan, Z. - P., and Luo, H., Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China, vol. 11, pp. 2321-2327, 2012.
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MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am. J. Med. Genet. A 143A: 2382-2389. http://dx.doi.org/10.1002/ajmg.a.31937 PMid:17853461   Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, et al. (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J. Med. Genet. 46: 598-606. http://dx.doi.org/10.1136/jmg.2008.062950 PMid:19264732   Kobrynski LJ and Sullivan KE (2007). Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370: 1443-1452. http://dx.doi.org/10.1016/S0140-6736(07)61601-8   Myers SM and Challman TD (2004). Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. Am. J. Med. Genet. A 131: 99-100. http://dx.doi.org/10.1002/ajmg.a.30290 PMid:15384100   Neumann SA, Tingley WG, Conklin BR, Shrader CJ, et al. (2009). AKAP10 (I646V) functional polymorphism predicts heart rate and heart rate variability in apparently healthy, middle-aged European-Americans. Psychophysiology 46: 466-472. http://dx.doi.org/10.1111/j.1469-8986.2009.00802.x PMid:19496216 PMCid:2890278   Shi FD and Jia JP (2011). Neurology and neurologic practice in China. Neurology 77: 1986-1992. http://dx.doi.org/10.1212/WNL.0b013e31823a0ed3 PMid:22123780   Slager RE, Newton TL, Vlangos CN, Finucane B, et al. (2003). Mutations in RAI1 associated with Smith-Magenis syndrome. Nat. Genet. 33: 466-468. http://dx.doi.org/10.1038/ng1126 PMid:12652298   Slavotinek AM (2008). Novel microdeletion syndromes detected by chromosome microarrays. Hum. Genet. 124: 1-17. http://dx.doi.org/10.1007/s00439-008-0513-9 PMid:18512078   Smith AC, McGavran L, Waldstein G and Robinson J (1982). Deletion of the 17 short arm in two patients with facial clefts. Am. J. Hum. Genet. 34 (Suppl): 410A.   Smith AC, McGavran L, Robinson J, Waldstein G, et al. (1986). Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet. 24: 393-414. http://dx.doi.org/10.1002/ajmg.1320240303 PMid:2425619   Stratton RF, Dobyns WB, Greenberg F, DeSana JB, et al. (1986). Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am. J. Med. Genet. 24: 421-432. http://dx.doi.org/10.1002/ajmg.1320240305 PMid:3728561   Sweeney E, Peart I, Tofeig M and Kerr B (1999). Smith-Magenis syndrome and tetralogy of Fallot. J. Med. Genet. 36: 501-502. PMid:10874646 PMCid:1734392   Tan ZP, Huang C, Xu ZB, Yang JF, et al. (2011). Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. Clin. Genet. DOI 10.1111/j.1399-0004.2011.01787.x. http://dx.doi.org/10.1111/j.1399-0004.2011.01787.x   Wong JT, Chan DK, Wong KY, Tan M, et al. (2003). Smith-Magenis syndrome and cyanotic congenital heart disease: a case report. Clin. Dysmorphol. 12: 73-74. http://dx.doi.org/10.1097/00019605-200301000-00014 PMid:12514371