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Page 1
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: de graaf bm. 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.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Zada A, Zhao Y, Halim D, Windster J, van der Linde HC, Glodener J, Overkleeft S, de Graaf BM, Verdijk RM, Brooks AS, Shepherd I, Gao Y, Burns AJ, Hofstra RMW, Alves MM. Zada A, et al. Among authors: de graaf bm. Hum Mol Genet. 2023 Jan 1;32(1):151-160. doi: 10.1093/hmg/ddac199. Hum Mol Genet. 2023. PMID: 35981053 Free PMC article.
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: de graaf bm. 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.
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. Among authors: de graaf bm. 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.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Kuil LE, MacKenzie KC, Tang CS, Windster JD, Le TL, Karim A, de Graaf BM, van der Helm R, van Bever Y, Sloots CEJ, Meeussen C, Tibboel D, de Klein A, Wijnen RMH, Amiel J, Lyonnet S, Garcia-Barcelo MM, Tam PKH, Alves MM, Brooks AS, Hofstra RMW, Brosens E. Kuil LE, et al. Among authors: de graaf bm. PLoS Genet. 2021 Aug 6;17(8):e1009698. doi: 10.1371/journal.pgen.1009698. eCollection 2021 Aug. PLoS Genet. 2021. PMID: 34358225 Free PMC article.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
MacKenzie KC, Garritsen R, Chauhan RK, Sribudiani Y, de Graaf BM, Rugenbrink T, Brouwer R, van Ijcken WFJ, de Blaauw I, Brooks AS, Sloots CEJ, Meeuwsen CJHM, Wijnen RM, Newgreen DF, Burns AJ, Hofstra RMW, Alves MM, Brosens E. MacKenzie KC, et al. Among authors: de graaf bm. Int J Mol Sci. 2021 Nov 16;22(22):12354. doi: 10.3390/ijms222212354. Int J Mol Sci. 2021. PMID: 34830235 Free PMC article.
TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction.
Zada A, Kuil LE, de Graaf BM, Kakiailatu N, Windster JD, Brooks AS, van Slegtenhorst M, de Koning B, Wijnen RMH, Melotte V, Hofstra RMW, Brosens E, Alves MM. Zada A, et al. Among authors: de graaf bm. Front Cell Dev Biol. 2022 Jul 8;10:901824. doi: 10.3389/fcell.2022.901824. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35874825 Free PMC article.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, Zamba-Papanicolaou E, Christophidou-Anastasiadou V, Hofstra RMW, Jongbloed JDH, Nicolaou N, Tanteles GA, Brooks AS, Alves MM. MacKenzie KC, et al. Among authors: de graaf bm. Hum Mutat. 2020 Nov;41(11):1906-1917. doi: 10.1002/humu.24097. Epub 2020 Sep 16. Hum Mutat. 2020. PMID: 32939943 Free PMC article.
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.
Widowati T, Melhem S, Patria SY, de Graaf BM, Sinke RJ, Viel M, Dijkhuis J, Sadewa AH, Purwohardjono R, Soenarto Y, Hofstra RM, Sribudiani Y. Widowati T, et al. Among authors: de graaf bm. Eur J Hum Genet. 2016 Jun;24(6):823-9. doi: 10.1038/ejhg.2015.214. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395553 Free PMC article.
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Wessels MW, De Graaf BM, Cohen-Overbeek TE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ. Wessels MW, et al. Among authors: de graaf bm, de krijger r, de groot de laat le. Hum Genet. 2008 Jan;122(6):595-603. doi: 10.1007/s00439-007-0436-x. Epub 2007 Oct 16. Hum Genet. 2008. PMID: 17938964
29 results