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260 results

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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. Among authors: sarles j. 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
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. Among authors: sarles j. 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. Among authors: sarles j. 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.
[Vomiting in infants].
Roquelaure B, Sarles J. Roquelaure B, et al. Among authors: sarles j. Rev Prat. 1999 Jan 15;49(2):223-6. Rev Prat. 1999. PMID: 9989162 Review. French. No abstract available.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Esteve C, et al. Among authors: sarles j. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429573 Free PMC article.
Severity scores in children with acute pancreatitis.
Fabre A, Petit P, Gaudart J, Mas E, Vial J, Olives JP, Sarles J. Fabre A, et al. Among authors: sarles j. J Pediatr Gastroenterol Nutr. 2012 Sep;55(3):266-7. doi: 10.1097/MPG.0b013e318254c1c7. J Pediatr Gastroenterol Nutr. 2012. PMID: 22437470
Efficacy of infliximab in pediatric Crohn's disease: a randomized multicenter open-label trial comparing scheduled to on demand maintenance therapy.
Ruemmele FM, Lachaux A, Cézard JP, Morali A, Maurage C, Giniès JL, Viola S, Goulet O, Lamireau T, Scaillon M, Breton A, Sarles J; Groupe Francophone d'Hépatologie, Gastroentérologie et Nutrition Pédiatrique. Ruemmele FM, et al. Among authors: sarles j. Inflamm Bowel Dis. 2009 Mar;15(3):388-94. doi: 10.1002/ibd.20788. Inflamm Bowel Dis. 2009. PMID: 19023899 Clinical Trial.
260 results