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Items: 1 to 20 of 118

1.

Intestinal epithelial dysplasia (tufting enteropathy).

Goulet O, Salomon J, Ruemmele F, de Serres NP, Brousse N.

Orphanet J Rare Dis. 2007 Apr 20;2:20. Review.

2.

Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy.

Roche O, Putterman M, Salomon J, Lacaille F, Brousse N, Goulet O, Dufier JL.

Am J Ophthalmol. 2010 Jul;150(1):116-121.e1. doi: 10.1016/j.ajo.2010.01.034. Epub 2010 May 5.

PMID:
20447614
3.

Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy).

Patey N, Scoazec JY, Cuenod-Jabri B, Canioni D, Kedinger M, Goulet O, Brousse N.

Gastroenterology. 1997 Sep;113(3):833-43.

PMID:
9287975
4.

Intractable diarrhea of infancy with epithelial and basement membrane abnormalities.

Goulet O, Kedinger M, Brousse N, Cuenod B, Colomb V, Patey N, de Potter S, Mougenot JF, Canioni D, Cerf-Bensussan N, et al.

J Pediatr. 1995 Aug;127(2):212-9.

PMID:
7636644
5.

Intractable diarrhea with tufting enteropathy: a favorable outcome is possible.

Lemale J, Coulomb A, Dubern B, Boudjemaa S, Viola S, Josset P, Tounian P, Girardet JP.

J Pediatr Gastroenterol Nutr. 2011 Jun;52(6):734-9. doi: 10.1097/MPG.0b013e31820731db.

PMID:
21478758
6.

Syndromic (phenotypic) diarrhea in early infancy.

Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP.

Orphanet J Rare Dis. 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. Review.

7.

Tufting Enteropathy with EpCAM Mutations in Two Siblings.

Ko JS, Seo JK, Shim JO, Hwang SH, Park HS, Kang GH.

Gut Liver. 2010 Sep;4(3):407-10. doi: 10.5009/gnl.2010.4.3.407. Epub 2010 Sep 24.

8.

Microvillous inclusion disease (microvillous atrophy).

Ruemmele FM, Schmitz J, Goulet O.

Orphanet J Rare Dis. 2006 Jun 26;1:22. Review.

9.

Intractable diarrhea of infancy with congenital intestinal mucosa abnormalities: outcome of four cases.

Gambarara M, Diamanti A, Ferretti F, Papadatou B, Knafelz D, Pietrobattista A, Castro M.

Transplant Proc. 2003 Dec;35(8):3052-3.

PMID:
14697977
10.

[Tufting enteropathy: a case report, histopathological methodology, and differential diagnoses].

Bosaleh A, Contreras M, García de Dávila MT.

Acta Gastroenterol Latinoam. 2015 Mar;45(1):65-9. Spanish.

PMID:
26076517
11.

Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy.

Davidson GP, Cutz E, Hamilton JR, Gall DG.

Gastroenterology. 1978 Nov;75(5):783-90.

PMID:
100367
12.

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.

Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19.

PMID:
24142340
13.

Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.

Goulet OJ, Brousse N, Canioni D, Walker-Smith JA, Schmitz J, Phillips AD.

J Pediatr Gastroenterol Nutr. 1998 Feb;26(2):151-61.

PMID:
9481629
14.

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.

Gastroenterology. 2008 Aug;135(2):429-37. doi: 10.1053/j.gastro.2008.05.036. Epub 2008 May 15.

15.

Reversal of intestinal failure-associated liver disease in infants and children on parenteral nutrition: experience with 93 patients at a referral center for intestinal rehabilitation.

Cowles RA, Ventura KA, Martinez M, Lobritto SJ, Harren PA, Brodlie S, Carroll J, Jan DM.

J Pediatr Surg. 2010 Jan;45(1):84-7; discussion 87-8. doi: 10.1016/j.jpedsurg.2009.10.014.

PMID:
20105585
16.

A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy.

Kahvecioğlu D, Yıldız D, Kılıç A, İnce-Alkan B, Erdeve Ö, Kuloğlu Z, Atasay B, Ensari A, Yılmaz R, Arsan S.

Turk J Pediatr. 2014 Jul-Aug;56(4):440-3.

17.

[Clinical studies of pediatric malabsorption syndromes].

Hosoyamada T.

Fukuoka Igaku Zasshi. 2006 Nov;97(11):322-50. Japanese.

PMID:
17228786
18.

Interdisciplinary management of pediatric intestinal failure: a 10-year review of rehabilitation and transplantation.

Nucci A, Burns RC, Armah T, Lowery K, Yaworski JA, Strohm S, Bond G, Mazariegos G, Squires R.

J Gastrointest Surg. 2008 Mar;12(3):429-35; discussion 435-6. Epub 2007 Dec 18.

PMID:
18092190
19.

Evaluation of intestinal biopsies for pediatric enteropathy: a proposed immunohistochemical panel approach.

Martin BA, Kerner JA, Hazard FK, Longacre TA.

Am J Surg Pathol. 2014 Oct;38(10):1387-95. doi: 10.1097/PAS.0000000000000314.

PMID:
25188866
20.

A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy.

Thoeni C, Amir A, Guo C, Zhang S, Avitzur Y, Heng YM, Cutz E, Muise AM.

J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):18-21. doi: 10.1097/MPG.0000000000000106.

PMID:
24048167
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