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UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. Duclaux-Loras R, et al. Among authors: parlato m. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997. J Clin Invest. 2022. PMID: 35575086 Free PMC article.
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. Among authors: parlato m. 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. Among authors: parlato m. 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.
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.
Parlato M, Charbit-Henrion F, Abi Nader E, Begue B, Guegan N, Bruneau J, Khater S, Macintyre E, Picard C, Frédéric RL, Le Bourhis L, Allez M, Goulet O, Cellier C, Hermine O, Cerf-Bensussan N, Malamut G. Parlato M, et al. Gastroenterology. 2019 Mar;156(4):1206-1210.e1. doi: 10.1053/j.gastro.2018.11.065. Epub 2018 Dec 15. Gastroenterology. 2019. PMID: 30557559 Free PMC article. No abstract available.
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter 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. Among authors: parlato m. J Crohns Colitis. 2021 Mar 5;15(3):517-518. doi: 10.1093/ecco-jcc/jjaa164. J Crohns Colitis. 2021. PMID: 32895718 Free PMC article. No abstract available.
Intestinal immunoregulation: lessons from human mendelian diseases.
Charbit-Henrion F, Parlato M, Malamut G, Ruemmele F, Cerf-Bensussan N. Charbit-Henrion F, et al. Among authors: parlato m. Mucosal Immunol. 2021 Sep;14(5):1017-1037. doi: 10.1038/s41385-021-00398-3. Epub 2021 Apr 15. Mucosal Immunol. 2021. PMID: 33859369 Free article. Review.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M. Ziegler A, et al. Among authors: parlato m. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010604 Free PMC article.
90 results