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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Rooryck C, et al. Among authors: burns aj. Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258343 Free PMC article.
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL. Tobin JL, et al. Among authors: burns aj. Proc Natl Acad Sci U S A. 2008 May 6;105(18):6714-9. doi: 10.1073/pnas.0707057105. Epub 2008 Apr 28. Proc Natl Acad Sci U S A. 2008. PMID: 18443298 Free PMC article.
Absence of the vagus nerve in the stomach of Tbx1-/- mutant mice.
Calmont A, Thapar N, Scambler PJ, Burns AJ. Calmont A, et al. Among authors: burns aj. Neurogastroenterol Motil. 2011 Feb;23(2):125-30. doi: 10.1111/j.1365-2982.2010.01615.x. Epub 2010 Oct 11. Neurogastroenterol Motil. 2011. PMID: 20939858
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. Halim D, et al. Among authors: burns aj. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647307
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Halim D, et al. Among authors: burns aj. Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8. Am J Hum Genet. 2017. PMID: 28602422 Free PMC article.
Advances in ontogeny of the enteric nervous system.
Burns AJ, Thapar N. Burns AJ, et al. Neurogastroenterol Motil. 2006 Oct;18(10):876-87. doi: 10.1111/j.1365-2982.2006.00806.x. Neurogastroenterol Motil. 2006. PMID: 16961690 Review.
The enteric nervous system.
Sasselli V, Pachnis V, Burns AJ. Sasselli V, et al. Among authors: burns aj. Dev Biol. 2012 Jun 1;366(1):64-73. doi: 10.1016/j.ydbio.2012.01.012. Epub 2012 Jan 24. Dev Biol. 2012. PMID: 22290331 Free article.
134 results