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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1986 1
1989 2
1990 2
1993 1
1994 1
1995 1
1998 2
2001 2
2006 1
2007 1
2008 2
2009 2
2010 1
2011 2
2013 2
2014 1
2024 0

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PubMed (OMIM) for id: 4072

23 results

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Page 1
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
Absence of cell-surface EpCAM in congenital tufting enteropathy.
Schnell U, Kuipers J, Mueller JL, Veenstra-Algra A, Sivagnanam M, Giepmans BN. Schnell U, et al. Hum Mol Genet. 2013 Jul 1;22(13):2566-71. doi: 10.1093/hmg/ddt105. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23462293 Free PMC article.
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.
Salomon J, Espinosa-Parrilla Y, Goulet O, Al-Qabandi W, Guigue P, Canioni D, Bruneau J, Alzahrani F, Almuhsen S, Cerf-Bensussan N, Jeanpierre M, Brousse N, Lyonnet S, Munnich A, Smahi A. Salomon J, et al. Eur J Med Genet. 2011 May-Jun;54(3):319-22. doi: 10.1016/j.ejmg.2011.01.009. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21315192
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ. Kuiper RP, et al. Hum Mutat. 2011 Apr;32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309036
Further evidence for EpCAM as the gene for congenital tufting enteropathy.
Sivagnanam M, Schaible T, Szigeti R, Byrd RH, Finegold MJ, Ranganathan S, Gopalakrishna GS, Tatevian N, Kellermayer R. Sivagnanam M, et al. Am J Med Genet A. 2010 Jan;152A(1):222-4. doi: 10.1002/ajmg.a.33186. Am J Med Genet A. 2010. PMID: 20034091 Free PMC article. No abstract available.
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.
Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N. Ligtenberg MJ, et al. Nat Genet. 2009 Jan;41(1):112-7. doi: 10.1038/ng.283. Epub 2008 Dec 21. Nat Genet. 2009. PMID: 19098912
Identification of EpCAM as the gene for congenital tufting enteropathy.
Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan BY, Libiger O, Schork NJ, Lavine JE, Taylor S, Newbury RO, Kolodner RD, Hoffman HM. Sivagnanam M, et al. Gastroenterology. 2008 Aug;135(2):429-37. doi: 10.1053/j.gastro.2008.05.036. Epub 2008 May 15. Gastroenterology. 2008. PMID: 18572020 Free PMC article.
Intestinal epithelial dysplasia (tufting enteropathy).
Goulet O, Salomon J, Ruemmele F, de Serres NP, Brousse N. Goulet O, et al. Orphanet J Rare Dis. 2007 Apr 20;2:20. doi: 10.1186/1750-1172-2-20. Orphanet J Rare Dis. 2007. PMID: 17448233 Free PMC article. Review.
23 results