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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, Holsink SAC, van der Zanden LFM, Galesloot TE, Tam PK, Steehouwer M, Acuna-Hidalgo R, Vorst MV, Kiemeney LA, Garcia-Barceló MM, de Blaauw I, Brunner HG, Roeleveld N, van Rooij IALM. van de Putte R, et al. Among authors: garcia barcelo mm. PLoS One. 2019 May 28;14(5):e0217477. doi: 10.1371/journal.pone.0217477. eCollection 2019. PLoS One. 2019. PMID: 31136621 Free PMC article. Clinical Trial.
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
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
87 results