Publications
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“Clinical significance of microRNA-34a in esophageal squamous cell carcinoma”, vol. 14, pp. 17684-17691, 2015.
, “Screening of differentially expressed genes in pathological scar tissues using expression microarray”, vol. 14, pp. 10743-10751, 2015.
, “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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Cassidy SB and Driscoll DJ (2009). Prader-Willi syndrome. Eur. J. Hum. Genet. 17: 3-13.
http://dx.doi.org/10.1038/ejhg.2008.165
PMid:18781185 PMCid:2985966
Chen JL, Yang YF, Huang C, Wang J, et al. (2012). Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies. Am. J. Med. Genet. A 158A: 685-688.
http://dx.doi.org/10.1002/ajmg.a.34434
PMid:22307725
Edelman EA, Girirajan S, Finucane B, Patel PI, et al. (2007). Gender, genotype, and phenotype differences in Smith- Magenis syndrome: a meta-analysis of 105 cases. Clin. Genet. 71: 540-550.
http://dx.doi.org/10.1111/j.1399-0004.2007.00815.x
PMid:17539903
Elsea SH and Girirajan S (2008). Smith-Magenis syndrome. Eur. J. Hum. Genet. 16: 412-421.
http://dx.doi.org/10.1038/sj.ejhg.5202009
PMid:18231123
Engelstad H, Carney G, S'aulis D, Rise J, et al. (2011). Large contiguous gene deletions in Sjogren-Larsson syndrome. Mol. Genet. Metab. 104: 356-361.
http://dx.doi.org/10.1016/j.ymgme.2011.05.015
PMid:21684788 PMCid:3196763
Gamba BF, Vieira GH, Souza DH, Monteiro FF, et al. (2011). Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. Genet. Mol. Res. 10: 2664-2670.
http://dx.doi.org/10.4238/2011.October.31.17
PMid:22057962
Girirajan S, Elsas LJ, Devriendt K and Elsea SH (2005). RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J. Med. Genet. 42: 820-828.
http://dx.doi.org/10.1136/jmg.2005.031211
PMid:15788730 PMCid:1735950
Girirajan S, Vlangos CN, Szomju BB, Edelman E, et al. (2006). Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet. Med. 8: 417-427.
http://dx.doi.org/10.1097/01.gim.0000228215.32110.89
PMid:16845274
Greenberg F, Guzzetta V, Montes dO-L, Magenis RE, et al. (1991). Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 49: 1207-1218.
PMid:1746552 PMCid:1686451
Greenberg F, Lewis RA, Potocki L, Glaze D, et al. (1996). Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am. J. Med. Genet. 62: 247-254.
http://dx.doi.org/10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q
Gropman AL, Duncan WC and Smith AC (2006). Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr. Neurol. 34: 337-350.
http://dx.doi.org/10.1016/j.pediatrneurol.2005.08.018
PMid:16647992
Huang C, Yang YF, Yin N, Chen JL, et al. (2012). Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion. Gene 498: 308-310.
http://dx.doi.org/10.1016/j.gene.2012.01.083
PMid:22366306
Kalay E, Uzumcu A, Krieger E, Caylan R, et al. (2007). 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