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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: bourgeois p. 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.
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: bourgeois p. Front Immunol. 2018 May 11;9:1036. doi: 10.3389/fimmu.2018.01036. eCollection 2018. Front Immunol. 2018. PMID: 29868001 Free PMC article.
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.
Busoni VB, Lemale J, Dubern B, Frangi F, Bourgeois P, Orsi M, Badens C, Fabre A. Busoni VB, et al. Among authors: bourgeois p. J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):37-41. doi: 10.1097/MPG.0000000000001218. J Pediatr Gastroenterol Nutr. 2017. PMID: 28027214
[Next-generation DNA sequencing in clinical diagnostics].
Lacoste C, Fabre A, Pécheux C, Lévy N, Krahn M, Malzac P, Bonello-Palot N, Badens C, Bourgeois P. Lacoste C, et al. Among authors: bourgeois p. Arch Pediatr. 2017 Apr;24(4):373-383. doi: 10.1016/j.arcped.2017.01.008. Epub 2017 Feb 24. Arch Pediatr. 2017. PMID: 28242148 Review. French.
High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome.
Bonello-Palot N, Laine M, Cuisset T, Ronchard T, Desgrouas C, Merono F, Ibrahim-Kosta M, Cerino M, Blanchard A, Bourgeois P, Levy N, Loundou A, Morange PE, Alessi MC, Badens C, Bonello L. Bonello-Palot N, et al. Among authors: bourgeois p. Atherosclerosis. 2020 Jan;293:86-91. doi: 10.1016/j.atherosclerosis.2019.12.002. Epub 2019 Dec 12. Atherosclerosis. 2020. PMID: 31877397 Free article.
621 results