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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: 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.
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
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
Microvillous atrophy: atypical presentations.
Perry A, Bensallah H, Martinez-Vinson C, Berrebi D, Arbeille B, Salomon J, Goulet O, Marinier E, Drunat S, Samson-Bouma ME, Gérard B, Hugot JP. Perry A, et al. Among authors: hugot jp. J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526. J Pediatr Gastroenterol Nutr. 2014. PMID: 25111220
[An acidosis not so basic].
Lefrère B, Ecochard-Dugelay E, Mosca A, Benoist JF, Hugot JP, Imbard A. Lefrère B, et al. Among authors: hugot jp. Ann Biol Clin (Paris). 2020 Aug 1;78(4):417-424. doi: 10.1684/abc.2020.1573. Ann Biol Clin (Paris). 2020. PMID: 32753366 Free article. French.
266 results