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Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Among authors: charbit henrion f. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.
Fertitta L, Charbit-Henrion F, Leclerc-Mercier S, Nguyen-Khoa T, Baran R, Alby C, Steffann J, Sermet-Gaudelus I, Hadj-Rabia S. Fertitta L, et al. Among authors: charbit henrion f. Genes (Basel). 2022 Dec 14;13(12):2360. doi: 10.3390/genes13122360. Genes (Basel). 2022. PMID: 36553627 Free PMC article.
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.
Rodari MM, Cazals-Hatem D, Uzzan M, Martin Silva N, Khiat A, Ta MC, Lhermitte L, Touzart A, Hanein S, Rouillon C, Joly F, Elmorjani A, Steffann J, Cerf-Bensussan N, Parlato M, Charbit-Henrion F. Rodari MM, et al. Among authors: charbit henrion f. J Clin Immunol. 2023 Aug;43(6):1403-1413. doi: 10.1007/s10875-023-01495-7. Epub 2023 May 9. J Clin Immunol. 2023. PMID: 37156989 Free PMC article.
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. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997. J Clin Invest. 2022. PMID: 35575086 Free PMC article.
Systemic inflammatory syndrome in children with FARSA deficiency.
Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, Khiat A, Frémond ML, Bader-Meunier B, Rodari MM, Seabra L, Rice GI, Legendre M, Drummond D, Berteloot L, Roux CJ, Boddaert N, Drabent P, Molina TJ, Lacaille F, Kossorotoff M, Cerf-Bensussan N, Parlato M, Hadchouel A. Charbit-Henrion F, et al. Clin Genet. 2022 May;101(5-6):552-558. doi: 10.1111/cge.14120. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35132614 Free PMC article.
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.
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