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Biliary atresia: East versus west.
Chung PHY, Zheng S, Tam PKH. Chung PHY, et al. Semin Pediatr Surg. 2020 Aug;29(4):150950. doi: 10.1016/j.sempedsurg.2020.150950. Epub 2020 Jul 23. Semin Pediatr Surg. 2020. PMID: 32861448 Review.
Identification of a HOXD13 mutation in a VACTERL patient.
Garcia-Barceló MM, Wong KK, Lui VC, Yuan ZW, So MT, Ngan ES, Miao XP, Chung PH, Khong PL, Tam PK. Garcia-Barceló MM, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3181-5. doi: 10.1002/ajmg.a.32426. Am J Med Genet A. 2008. PMID: 19006232
MNX1 (HLXB9) mutations in Currarino patients.
Garcia-Barceló MM, Lui VC, So MT, Miao X, Leon TY, Yuan ZW, Ngan ES, Ehsan T, Chung PH, Khong PL, Wong KK, Tam PK. Garcia-Barceló MM, et al. J Pediatr Surg. 2009 Oct;44(10):1892-8. doi: 10.1016/j.jpedsurg.2009.03.039. J Pediatr Surg. 2009. PMID: 19853743
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
Garcia-Barceló MM, Yeung MY, Miao XP, Tang CS, Cheng G, So MT, Ngan ES, Lui VC, Chen Y, Liu XL, Hui KJ, Li L, Guo WH, Sun XB, Tou JF, Chan KW, Wu XZ, Song YQ, Chan D, Cheung K, Chung PH, Wong KK, Sham PC, Cherny SS, Tam PK. Garcia-Barceló MM, et al. Hum Mol Genet. 2010 Jul 15;19(14):2917-25. doi: 10.1093/hmg/ddq196. Epub 2010 May 11. Hum Mol Genet. 2010. PMID: 20460270 Free PMC article.
Fine mapping of the NRG1 Hirschsprung's disease locus.
Tang CS, Tang WK, So MT, Miao XP, Leung BM, Yip BH, Leon TY, Ngan ES, Lui VC, Chen Y, Chan IH, Chung PH, Liu XL, Wu XZ, Wong KK, Sham PC, Cherny SS, Tam PK, Garcia-Barceló MM. Tang CS, et al. PLoS One. 2011 Jan 20;6(1):e16181. doi: 10.1371/journal.pone.0016181. PLoS One. 2011. PMID: 21283760 Free PMC article.
Mutations in the NRG1 gene are associated with Hirschsprung disease.
Tang CS, Ngan ES, Tang WK, So MT, Cheng G, Miao XP, Leon TY, Leung BM, Hui KJ, Lui VH, Chen Y, Chan IH, Chung PH, Liu XL, Wong KK, Sham PC, Cherny SS, Tam PK, Garcia-Barcelo MM. Tang CS, et al. Hum Genet. 2012 Jan;131(1):67-76. doi: 10.1007/s00439-011-1035-4. Epub 2011 Jun 25. Hum Genet. 2012. PMID: 21706185
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.
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.
Tang CS, Cheng G, So MT, Yip BH, Miao XP, Wong EH, Ngan ES, Lui VC, Song YQ, Chan D, Cheung K, Yuan ZW, Lei L, Chung PH, Liu XL, Wong KK, Marshall CR, Scherer SW, Cherny SS, Sham PC, Tam PK, Garcia-Barceló MM. Tang CS, et al. PLoS Genet. 2012;8(5):e1002687. doi: 10.1371/journal.pgen.1002687. Epub 2012 May 10. PLoS Genet. 2012. PMID: 22589734 Free PMC article.
104 results