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ELF1 is associated with systemic lupus erythematosus in Asian populations.
Yang J, Yang W, Hirankarn N, Ye DQ, Zhang Y, Pan HF, Mok CC, Chan TM, Wong RW, Mok MY, Lee KW, Wong SN, Leung AM, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Baum L, Kwan P, Lee TL, Ho MH, Lee PP, Wong WH, Zeng S, Zhang J, Wong CM, Ng IO, Garcia-Barceló MM, Cherny SS, Tam PK, Sham PC, Lau CS, Lau YL. Yang J, et al. Hum Mol Genet. 2011 Feb 1;20(3):601-7. doi: 10.1093/hmg/ddq474. Epub 2010 Nov 2. Hum Mol Genet. 2011. PMID: 21044949
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
Mutational analysis of SHH and GLI3 in anorectal malformations.
Garcia-Barceló MM, Chi-Hang Lui V, Miao X, So MT, Yuk-yu Leon T, Yuan ZW, Li L, Liu L, Wang B, Sun XB, Huang LM, Tou JF, Sau-wai Ngan E, Cherny SS, Chan KW, Lee KH, Wang W, Kak-yuen Wong K, Kwong-hang Tam P. Garcia-Barceló MM, et al. Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):644-8. doi: 10.1002/bdra.20482. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18655123
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
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.
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
87 results