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Page 1
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW. Sribudiani Y, et al. Among authors: alves mm. Gastroenterology. 2018 Jul;155(1):118-129.e6. doi: 10.1053/j.gastro.2018.03.034. Epub 2018 Mar 28. Gastroenterology. 2018. PMID: 29601828 Free article.
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Alves MM, Sribudiani Y, Brouwer RW, Amiel J, Antiñolo G, Borrego S, Ceccherini I, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, van Ijcken WF, Eggen BJ, te Meerman GJ, Hofstra RM. Alves MM, et al. Dev Biol. 2013 Oct 1;382(1):320-9. doi: 10.1016/j.ydbio.2013.05.019. Epub 2013 May 23. Dev Biol. 2013. PMID: 23707863 Free article. Review.
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: alves mm. 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
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, Baple EL, Dehghani M, Crosby AH, Hofstra RM. Alves MM, et al. Eur J Hum Genet. 2016 Nov;24(11):1627-1629. doi: 10.1038/ejhg.2016.58. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352967 Free PMC article.
Genetics of enteric neuropathies.
Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM. Brosens E, et al. Among authors: alves mm. Dev Biol. 2016 Sep 15;417(2):198-208. doi: 10.1016/j.ydbio.2016.07.008. Epub 2016 Jul 15. Dev Biol. 2016. PMID: 27426273 Free article. Review.
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM. Halim D, et al. Among authors: alves mm. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14. Proc Natl Acad Sci U S A. 2017. PMID: 28292896 Free PMC article.
250 results