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Items: 11

1.

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
2.

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
4.

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
5.

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
6.

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

Kammermeier J, Drury S, James CT, Dziubak R, Ocaka L, Elawad M, Beales P, Lench N, Uhlig HH, Bacchelli C, Shah N.

J Med Genet. 2014 Nov;51(11):748-55. doi: 10.1136/jmedgenet-2014-102624. Epub 2014 Sep 5.

PMID:
25194001
7.

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
8.

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.

9.

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.

10.

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
11.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER.

Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. doi: 10.1053/j.gastro.2010.02.010. Epub 2010 Feb 20.

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