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Page 1
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: marinier e. 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.
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: marinier e. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
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: marinier e. Front Immunol. 2018 May 11;9:1036. doi: 10.3389/fimmu.2018.01036. eCollection 2018. Front Immunol. 2018. PMID: 29868001 Free PMC article.
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: marinier e. 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
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: marinier e. J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526. J Pediatr Gastroenterol Nutr. 2014. PMID: 25111220
Pediatric Home Parenteral Nutrition in France: A six years national survey.
Goulet O, Breton A, Coste ME, Dubern B, Ecochard-Dugelay E, Guimber D, Loras-Duclaux I, Abi Nader E, Marinier E, Peretti N, Lambe C. Goulet O, et al. Among authors: marinier e. Clin Nutr. 2021 Oct;40(10):5278-5287. doi: 10.1016/j.clnu.2021.08.002. Epub 2021 Aug 14. Clin Nutr. 2021. PMID: 34534896
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T. Janecke AR, et al. Among authors: marinier e. Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358773 Free PMC article.
Pregnancy is possible on long-term home parenteral nutrition in patients with chronic intestinal failure: Results of a long term retrospective observational study.
Billiauws L, Armengol Debeir L, Poullenot F, Chambrier C, Cury N, Ceccaldi PF, Latour Beaudet E, Corcos O, Marinier E, Goulet O, Lerebours E, Joly F. Billiauws L, et al. Among authors: marinier e. Clin Nutr. 2017 Aug;36(4):1165-1169. doi: 10.1016/j.clnu.2016.08.007. Epub 2016 Aug 23. Clin Nutr. 2017. PMID: 27624996
40 results