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Page 1
A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.
Duclaux-Loras R, Bourgeois P, Lavrut PM, Charbit-Henrion F, Bonniaud-Blot P, Maudinas R, Bournez M, Faure M, Cerf-Bensussan N, Lachaux A, Peretti N, Fabre A. Duclaux-Loras R, et al. Among authors: bourgeois p. Clin Res Hepatol Gastroenterol. 2021 Nov;45(6):101640. doi: 10.1016/j.clinre.2021.101640. Epub 2021 Mar 1. Clin Res Hepatol Gastroenterol. 2021. PMID: 33662777
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
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: bourgeois p. 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
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Estève C, Roman C, DeLeusse C, Baravalle M, Bertaux K, Blanc F, Bourgeois P, Bresson V, Cano A, Coste ME, Delteil C, Lacoste C, Loosveld M, De Paula AM, Monnier AS, Secq V, Levy N, Badens C, Fabre A. Estève C, et al. Among authors: bourgeois p. Eur J Med Genet. 2021 Oct;64(10):104294. doi: 10.1016/j.ejmg.2021.104294. Epub 2021 Aug 3. Eur J Med Genet. 2021. PMID: 34352414
621 results