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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: goulet o. 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.
Efficacy and tolerance of infliximab in children and adolescents with Crohn's disease.
Lamireau T, Cézard JP, Dabadie A, Goulet O, Lachaux A, Turck D, Maurage C, Morali A, Sokal E, Belli D, Stoller J, Cadranel S, Ginies JL, Viola S, Huet F, Languepin J, Lenaerts C, Bury F, Sarles J; French-Speaking Group for Pediatric Gastroenterology Nutrition. Lamireau T, et al. Among authors: goulet o. Inflamm Bowel Dis. 2004 Nov;10(6):745-50. doi: 10.1097/00054725-200411000-00008. Inflamm Bowel Dis. 2004. PMID: 15626892
Syndromic (phenotypic) diarrhea in early infancy.
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP. Goulet O, et al. Orphanet J Rare Dis. 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. Orphanet J Rare Dis. 2008. PMID: 18304370 Free PMC article. Review.
12-month follow-up after successful infliximab therapy in pediatric crohn disease.
Wynands J, Belbouab R, Candon S, Talbotec C, Mougenot JF, Chatenoud L, Schmitz J, Cézard JP, Goulet O, Hugot JP, Ruemmele FM. Wynands J, et al. Among authors: goulet o. J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):293-8. doi: 10.1097/MPG.0b013e31815604cd. J Pediatr Gastroenterol Nutr. 2008. PMID: 18376247
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: goulet o. Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17. Hum Mutat. 2011. PMID: 21120949
405 results