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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. Fabre A, et al. Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17. Hum Mutat. 2011. PMID: 21120949
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. Fabre A, et al. Am J Hum Genet. 2012 Apr 6;90(4):689-92. doi: 10.1016/j.ajhg.2012.02.009. Epub 2012 Mar 22. Am J Hum Genet. 2012. PMID: 22444670 Free PMC article.
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
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. Fabre A, et al. Arch Dis Child. 2014 Jan;99(1):35-8. doi: 10.1136/archdischild-2013-304016. Epub 2013 Oct 9. Arch Dis Child. 2014. PMID: 24108068
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Eckard SC, Rice GI, Fabre A, Badens C, Gray EE, Hartley JL, Crow YJ, Stetson DB. Eckard SC, et al. Among authors: fabre a. Nat Immunol. 2014 Sep;15(9):839-45. doi: 10.1038/ni.2948. Epub 2014 Jul 27. Nat Immunol. 2014. PMID: 25064072 Free PMC article.
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.
Busoni VB, Lemale J, Dubern B, Frangi F, Bourgeois P, Orsi M, Badens C, Fabre A. Busoni VB, et al. Among authors: fabre a. J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):37-41. doi: 10.1097/MPG.0000000000001218. J Pediatr Gastroenterol Nutr. 2017. PMID: 28027214
520 results