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Page 1
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Bader-Meunier B, Martins AL, Charbit-Henrion F, Meinzer U, Belot A, Cuisset L, Faye A, Georgin-Lavialle S, Quartier P, Remy-Piccolo V, Ruemmele F, Uettwiller F, Viala J, Cerf Bensussan N, Berrebi D, Melki I. Bader-Meunier B, et al. Inflamm Bowel Dis. 2021 Oct 20;27(11):1853-1857. doi: 10.1093/ibd/izab139. Inflamm Bowel Dis. 2021. PMID: 34525209
Anastomotic ulcerations after intestinal resection in infancy.
Charbit-Henrion F, Chardot C, Ruemmele F, Talbotec C, Morali A, Goulet O, Colomb V. Charbit-Henrion F, et al. J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):531-6. doi: 10.1097/MPG.0000000000000472. J Pediatr Gastroenterol Nutr. 2014. PMID: 24979478
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.
Charbit-Henrion F, Jeverica AK, Bègue B, Markelj G, Parlato M, Avčin SL, Callebaut I, Bras M, Parisot M, Jazbec J, Homan M, Ihan A, Rieux-Laucat F, Stolzenberg MC, Ruemmele FM, Avčin T, Cerf-Bensussan N; GENIUS Group. Charbit-Henrion F, et al. J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):378-384. doi: 10.1097/MPG.0000000000001262. J Pediatr Gastroenterol Nutr. 2017. PMID: 27253662
First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.
Parlato M, Charbit-Henrion F, Hayes P, Tiberti A, Aloi M, Cucchiara S, Bègue B, Bras M, Pouliet A, Rakotobe S, Ruemmele F, Knaus UG, Cerf-Bensussan N. Parlato M, et al. Gastroenterology. 2017 Aug;153(2):609-611.e3. doi: 10.1053/j.gastro.2016.12.053. Epub 2017 Jul 3. Gastroenterology. 2017. PMID: 28683258 No abstract available.
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.
Parlato M, Charbit-Henrion F, Pan J, Romano C, Duclaux-Loras R, Le Du MH, Warner N, Francalanci P, Bruneau J, Bras M, Zarhrate M, Bègue B, Guegan N, Rakotobe S, Kapel N, De Angelis P, Griffiths AM, Fiedler K, Crowley E, Ruemmele F, Muise AM, Cerf-Bensussan N. Parlato M, et al. EMBO Mol Med. 2018 Apr;10(4):e8483. doi: 10.15252/emmm.201708483. EMBO Mol Med. 2018. PMID: 29567797 Free PMC article.
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. 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.
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
Charbit-Henrion F, Bègue B, Sierra A, Hanein S, Stolzenberg MC, Li Z, Pellegrini S, Garcelon N, Jeanpierre M, Neven B, Loge I, Picard C, Rosain J, Bustamante J, Le Lorc'h M, Pigneur B, Fernandes A; GENIUS Group; Rieux-Laucat F, Amil Dias J, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. PLoS One. 2018 Oct 26;13(10):e0205826. doi: 10.1371/journal.pone.0205826. eCollection 2018. PLoS One. 2018. PMID: 30365510 Free PMC article.
Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.
Duclaux-Loras R, Charbit-Henrion F, Neven B, Nowak J, Collardeau-Frachon S, Malcus C, Ray PF, Moshous D, Beltrand J, Goulet O, Cerf-Bensussan N, Lachaux A, Rieux-Laucat F, Ruemmele FM. Duclaux-Loras R, et al. Clin Transl Gastroenterol. 2018 Nov 2;9(10):201. doi: 10.1038/s41424-018-0064-x. Clin Transl Gastroenterol. 2018. PMID: 30385752 Free PMC article.
38 results