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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: hofstra rm. 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.
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ijzendoorn SC, Shepherd IT, Verheij JB, Hofstra RM. Van Der Werf CS, et al. Among authors: hofstra rm. Gastroenterology. 2012 Mar;142(3):453-462.e3. doi: 10.1053/j.gastro.2011.11.038. Epub 2011 Dec 7. Gastroenterology. 2012. PMID: 22155368
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: hofstra rm. 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.
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: hofstra rm. 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. 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: hofstra rmw. Hum Mol Genet. 2023 Jan 1;32(1):151-160. doi: 10.1093/hmg/ddac199. Hum Mol Genet. 2023. PMID: 35981053 Free PMC article.
294 results