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Page 1
Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.
Dimitrov G, Bamberger S, Navard C, Dreux S, Badens C, Bourgeois P, Buffat C, Hugot JP, Fabre A. Dimitrov G, et al. Among authors: hugot jp. Eur J Med Genet. 2019 Oct;62(10):103712. doi: 10.1016/j.ejmg.2019.103712. Epub 2019 Jul 2. Eur J Med Genet. 2019. PMID: 31276831
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: hugot jp. 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.
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: hugot jp. 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.
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
Vély F, Barlogis V, Marinier E, Coste ME, Dubern B, Dugelay E, Lemale J, Martinez-Vinson C, Peretti N, Perry A, Bourgeois P, Badens C, Goulet O, Hugot JP, Farnarier C, Fabre A. Vély F, et al. Among authors: hugot jp. Front Immunol. 2018 May 11;9:1036. doi: 10.3389/fimmu.2018.01036. eCollection 2018. Front Immunol. 2018. PMID: 29868001 Free PMC article.
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Among authors: hugot jp. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, Rakotobe S, Bruneau J, Fourrage C, Alibeu O, Rieux-Laucat F, Lévy E, Stolzenberg MC, Mazerolles F, Latour S, Lenoir C, Fischer A, Picard C, Aloi M, Dias JA, Hariz MB, Bourrier A, Breuer C, Breton A, Bronsky J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Gurkan OE, Fabre A, Fischer A, Diaz MG, Gonzalez-Lama Y, Goulet O, Guariso G, Gurcan N, Homan M, Hugot JP, Jeziorski E, Karanika E, Lachaux A, Lewindon P, Lima R, Magro F, Major J, Malamut G, Mas E, Mattyus I, Mearin LM, Melek J, Navas-Lopez VM, Paerregaard A, Pelatan C, Pigneur B, Pais IP, Rebeuh J, Romano C, Siala N, Strisciuglio C, Tempia-Caliera M, Tounian P, Turner D, Urbonas V, Willot S, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. Among authors: hugot jp. J Crohns Colitis. 2018 Aug 29;12(9):1104-1112. doi: 10.1093/ecco-jcc/jjy068. J Crohns Colitis. 2018. PMID: 29788237 Free PMC article.
A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young Adults.
Madre C, Mašić M, Prlenda-Touilleux D, Brueckner A, Koletzko S, Fabre A, Viala J, Lima R, Enaud R, Lemale J, Kolho KL, Bergoin C, Martinez-Vinson C, Dugelay E, Alvisi P, Aloi M, Miele E, Duclaux-Loras R, Nachury M, Languepin J, Willot S, Dupont-Lucas C, Mosca A, Tzivinikos C, Shamasneh I, Kolaček S, Hugot JP; pediatric GETAID group and the ESPGHAN IBD Porto group. Madre C, et al. Among authors: hugot jp. J Pediatr Gastroenterol Nutr. 2021 Sep 1;73(3):333-337. doi: 10.1097/MPG.0000000000003200. J Pediatr Gastroenterol Nutr. 2021. PMID: 34117192
Functional abdominal pain disorders and patient- and parent-reported outcomes in children with inflammatory bowel disease in remission.
Tran LC, Bridoux-Henno L, Gastineau S, Dabadie A, Carré E, Hugot JP, Martinez-Vinson C, Mosca A, Coopman S, Lamireau T, Enaud R, Clouzeau H, Bertrand V, Pigneur B, Ruemmele F, Degas V, Breton A, Mas E, Lacotte É, Chaillou-Legault E, Caron N, Languepin J, Willot S, Bouazza A, Spyckerelle C, Dimitrov G, Thomassin N, Djeddi D, Vanrenterghem A, Grandjean C, Viala J, Dupont-Lucas C. Tran LC, et al. Among authors: hugot jp. Dig Liver Dis. 2021 Oct;53(10):1268-1275. doi: 10.1016/j.dld.2021.05.034. Epub 2021 Jun 27. Dig Liver Dis. 2021. PMID: 34187767 Free article.
[Diarrhea in children].
Hugot JP, Cézard JP. Hugot JP, et al. Rev Prat. 1998 Feb 15;48(4):382-8. Rev Prat. 1998. PMID: 9781093 Review. French.
265 results