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Items: 1 to 20 of 106

1.

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Fabre A, Martinez-Vinson C, Goulet O, Badens C.

Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Review.

2.

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.

Fabre A, Breton A, Coste ME, Colomb V, Dubern B, Lachaux A, Lemale J, Mancini J, Marinier E, Martinez-Vinson C, Peretti N, Perry A, Roquelaure B, Venaille A, Sarles J, Goulet O, Badens C.

Arch Dis Child. 2014 Jan;99(1):35-8. doi: 10.1136/archdischild-2013-304016. Epub 2013 Oct 9.

PMID:
24108068
3.

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.

4.

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C.

Am J Hum Genet. 2012 Apr 6;90(4):689-92. doi: 10.1016/j.ajhg.2012.02.009. Epub 2012 Mar 22.

5.

Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.

Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK.

Eur J Pediatr. 2015 Oct;174(10):1405-11. doi: 10.1007/s00431-015-2563-z. Epub 2015 May 15. Review.

PMID:
25976726
7.

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

Fabre A, Badens C.

Intractable Rare Dis Res. 2014 Feb;3(1):8-11. doi: 10.5582/irdr.3.8. Review.

8.

Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.

Fabre A, André N, Breton A, Broué P, Badens C, Roquelaure B.

Am J Med Genet A. 2007 Mar 15;143A(6):584-8.

PMID:
17318842
9.

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.

Monies DM, Rahbeeni Z, Abouelhoda M, Naim EA, Al-Younes B, Meyer BF, Al-Mehaidib A.

J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):352-6. doi: 10.1097/MPG.0000000000000627.

PMID:
25714577
10.

Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.

Lee WS, Teo KM, Ng RT, Chong SY, Kee BP, Chua KH.

Gene. 2016 Jul 15;586(1):1-6. doi: 10.1016/j.gene.2016.03.049. Epub 2016 Apr 12.

PMID:
27050310
11.

Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality.

Dweikat I, Sultan M, Maraqa N, Hindi T, Abu-Rmeileh S, Abu-Libdeh B.

Am J Med Genet A. 2007 Mar 15;143A(6):581-3.

PMID:
17236206
12.

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.

Fabre A, Martinez-Vinson C, Roquelaure B, Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale J, Cézard JP, Goulet O, Sarles J, Levy N, Badens C.

Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17.

PMID:
21120949
13.

Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.

Landers MC, Schroeder TL.

Pediatr Dermatol. 2003 Sep-Oct;20(5):432-5.

PMID:
14521564
14.

Tricho-hepato-enteric syndrome presenting with mild colitis.

Egritas O, Dalgic B, Onder M.

Eur J Pediatr. 2009 Aug;168(8):933-5. doi: 10.1007/s00431-008-0861-4. Epub 2008 Nov 4.

PMID:
18982349
15.

Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.

Zheng B, Pan J, Jin Y, Wang C, Liu Z.

Mol Med Rep. 2016 Sep;14(3):2107-10. doi: 10.3892/mmr.2016.5503. Epub 2016 Jul 11.

PMID:
27431780
16.

Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.

Girault D, Goulet O, Le Deist F, Brousse N, Colomb V, Césarini JP, de Potter S, Canioni D, Griscelli C, Fischer A, et al.

J Pediatr. 1994 Jul;125(1):36-42.

PMID:
8021782
17.

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.

18.

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.

Verloes A, Lombet J, Lambert Y, Hubert AF, Deprez M, Fridman V, Gosseye S, Rigo J, Sokal E.

Am J Med Genet. 1997 Feb 11;68(4):391-5.

PMID:
9021008
19.

IBD-like features in Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome.

Busoni V, Lemale J, Dubern B, Frangi F, Bourgeois P, Orsi M, Badens C, Fabre A.

J Pediatr Gastroenterol Nutr. 2016 Mar 28. [Epub ahead of print]

PMID:
27035375
20.

Assessment and outcome of children with intestinal failure referred for intestinal transplantation.

Ganousse-Mazeron S, Lacaille F, Colomb-Jung V, Talbotec C, Ruemmele F, Sauvat F, Chardot C, Canioni D, Jan D, Revillon Y, Goulet O.

Clin Nutr. 2015 Jun;34(3):428-35. doi: 10.1016/j.clnu.2014.04.015. Epub 2014 Apr 30.

PMID:
25015836

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