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RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
So MT, Leon TY, Cheng G, Tang CS, Miao XP, Cornes BK, Diem NN, Cui L, Ngan ES, Lui VC, Wu XZ, Wang B, Wang H, Yuan ZW, Huang LM, Li L, Xia H, Zhu D, Liu J, Nguyen TL, Chan IH, Chung PH, Liu XL, Zhang R, Wong KK, Sham PC, Cherny SS, Tam PK, Garcia-Barcelo MM. So MT, et al. PLoS One. 2011;6(12):e28986. doi: 10.1371/journal.pone.0028986. Epub 2011 Dec 9. PLoS One. 2011. PMID: 22174939 Free PMC article.
RET and NRG1 interplay in Hirschsprung disease.
Gui H, Tang WK, So MT, Proitsi P, Sham PC, Tam PK, Ngan ES, Cherny SS, Garcia-Barceló MM. Gui H, et al. Hum Genet. 2013 May;132(5):591-600. doi: 10.1007/s00439-013-1272-9. Epub 2013 Feb 12. Hum Genet. 2013. PMID: 23400839
Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.
Tang CS, Li P, Lai FP, Fu AX, Lau ST, So MT, Lui KN, Li Z, Zhuang X, Yu M, Liu X, Ngo ND, Miao X, Zhang X, Yi B, Tang S, Sun X, Zhang F, Liu H, Liu Q, Zhang R, Wang H, Huang L, Dong X, Tou J, Cheah KS, Yang W, Yuan Z, Yip KY, Sham PC, Tam PK, Garcia-Barcelo MM, Ngan ES. Tang CS, et al. Gastroenterology. 2018 Dec;155(6):1908-1922.e5. doi: 10.1053/j.gastro.2018.09.012. Epub 2018 Sep 12. Gastroenterology. 2018. PMID: 30217742
Mapping of a Hirschsprung's disease locus in 3p21.
Garcia-Barceló MM, Fong PY, Tang CS, Miao XP, So MT, Yuan ZW, Li L, Guo WH, Liu L, Wang B, Sun XB, Huang LM, Tou JF, Wong KK, Ngan ES, Lui VC, Cherny SS, Sham PC, Tam PK. Garcia-Barceló MM, et al. Eur J Hum Genet. 2008 Jul;16(7):833-40. doi: 10.1038/ejhg.2008.18. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285831
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, So MT, Leon TY, Miao XP, Shum CK, Liu FQ, Yeung MY, Yuan ZW, Guo WH, Liu L, Sun XB, Huang LM, Tou JF, Song YQ, Chan D, Cheung KM, Wong KK, Cherny SS, Sham PC, Tam PK. Garcia-Barcelo MM, et al. Proc Natl Acad Sci U S A. 2009 Feb 24;106(8):2694-9. doi: 10.1073/pnas.0809630105. Epub 2009 Feb 5. Proc Natl Acad Sci U S A. 2009. PMID: 19196962 Free PMC article.
87 results